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22 results on '"Fatemeh Hadipour"'

1. Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

Author

Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, and Arndt Rolfs

Subjects
Gaucher disease, lyso-Gb1, glucosylsphingosine, biomarkers, GD-DS3, Medicine (General), R5-920
Abstract

Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine (lyso-Gb1). The international, multicenter, observational “Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease”—LYSO-PROOF study succeeded in enrolling a cohort of 160 treatment-naïve GD patients from diverse geographic regions and evaluated the potential of lyso-Gb1 as a specific biomarker for GD. Using genotypes based on established classifications for clinical presentation, patients were stratified into type 1 GD (n = 114) and further subdivided into mild (n = 66) and severe type 1 GD (n = 48). Due to having previously unreported genotypes, 46 patients could not be classified. Though lyso-Gb1 values at enrollment were widely distributed, they displayed a moderate and statistically highly significant correlation with disease severity measured by the GD-DS3 scoring system in all GD patients (r = 0.602, p < 0.0001). These findings support the utility of lyso-Gb1 as a sensitive biomarker for GD and indicate that it could help to predict the clinical course of patients with undescribed genotypes to improve personalized care in the future.

Published
2023
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2. Investigation of Chromosomal Abnormalities and Microdeletion/Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

Author

Akbar Mohammadzadeh, Susan Akbaroghli, Ehsan Aghaei-Moghadam, Nejat Mahdieh, Reza Shervin Badv, Payman Jamali, Roxana Kariminejad, Zahra Chavoshzadeh, Saghar Ghasemi Firouzabadi, Roxana Mansour Ghanaie, Ahoura Nozari, Sussan Banihashemi, Fatemeh Hadipour, Zahra Hadipour, Ariana Kariminejad, Hossein Najmabadi, Yousef Shafeghati, and Farkhondeh Behjati

Subjects
Array Comparative Genomic Hybridization, Chromosomal Abnormalities, Congenital Abnormalities, Microdeletions, Multiplex Ligation-Dependent Probe Amplification, Medicine, Science
Abstract

Objective: Major birth defects are inborn structural or functional anomalies with long-term disability and adverse impacts on individuals, families, health-care systems, and societies. Approximately 20% of birth defects are due to chromosomal and genetic conditions. Inspired by the fact that neonatal deaths are caused by birth defects in about 20 and 10% of cases in Iran and worldwide respectively, we conducted the present study to unravel the role of chromosome abnormalities, including microdeletion/microduplication(s), in multiple congenital abnormalities in a number of Iranian patients. Materials and Methods: In this descriptive cross-sectional study, 50 sporadic patients with Multiple Congenital Anomalies (MCA) were selected. The techniques employed included conventional karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridisation (array-CGH), according to the clinical diagnosis for each patient. Results: Chromosomal abnormalities and microdeletion/microduplication(s) were observed in eight out of fifty patients (16%). The abnormalities proved to result from the imbalances in chromosomes 1, 3, 12, and 18 in four of the patients. However, the other four patients were diagnosed to suffer from the known microdeletions of 22q11.21, 16p13.3, 5q35.3, and 7q11.23. Conclusion: In the present study, we report a patient with 46,XY, der(18)[12]/46,XY, der(18), +mar[8] dn presented with MCA associated with hypogammaglobulinemia. Given the patient’s seemingly rare and highly complex chromosomal abnormality and the lack of any concise mechanism presented in the literature to justify the case, we hereby propose a novel mechanism for the formation of both derivative and ring chromosome 18. In addition, we introduce a new 12q abnormality and a novel association of an Xp22.33 duplication with 1q43q44 deletion syndrome. The phenotype analysis of the patients with chromosome abnormality would be beneficial for further phenotype-genotype correlation studies.

Published
2019
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3. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Author

Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dung Vu Chi, Nan Chen, and Sergey Kutsev

Subjects
at‐risk populations screening, cascade genotyping, early diagnosis, Fabry disease, family genetic testing, pedigree drawing, Genetics, QH426-470
Abstract

Abstract Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end‐stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non‐specificity of early symptoms. Newborn screening and screening of at‐risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise. Methods We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts’ own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries. Results There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists. Conclusion In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.

Published
2021
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4. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

Author

Olga Lomakina, Ekaterina Alekseeva, Sania Valieva, Tatiana Bzarova, Irina Nikishina, Elena Zholobova, Svetlana Rodionovskaya, Maria Kaleda, Yasuo Nakagishi, Masaki Shimizu, Mao Mizuta, Akihiro Yachie, Yuko Sugita, Nami Okamoto, Kousuke Shabana, Takuji Murata, Hiroshi Tamai, Eve M. Smith, Peng Yin, Andrea L. Jorgensen, Michael W. Beresford, on behalf of On behalf of the UK JSLE Cohort Study, Antonio Eleuteri, Beatrice Goilav, Laura Lewandowski, Angel Phuti, Dawn Wahezi, Tamar Rubinstein, Caroline Jones, Paul Newland, Stephen Marks, Rachel Corkhill, Diana Ekdawy, Clarissa Pilkington, Kjell Tullus, Chaim Putterman, Chris Scott, Antony C. Fisher, Andrea Jorgensen, Ezgi Deniz Batu, Can Kosukcu, Ekim Taskiran, Sema Akman, Kubra Ozturk, Betul Sozeri, Erbil Unsal, Zelal Ekinci, Yelda Bilginer, Mehmet Alikasifoglu, Seza Ozen, Hanna Lythgoe, Hermine I. Brunner, Gaurav Gulati, Jordan T. Jones, Mekibib Altaye, Jamie Eaton, Mark Difrancesco, Joo Guan Yeo, Jingyao Leong, Loshinidevi D/O Thana Bathi, Thaschawee Arkachaisri, Salvatore Albani, Nagla Abdelrahman, Michael W Beresford, Valentina Leone, UK JSLE study group supported by the National Institute of Health Research Clinical Research Network, Noortje Groot, D. Shaikhani, I. E. M. Bultink, M. Bijl, R. J. E. M. Dolhain, Y. K. O. Teng, E. Zirkzee, K. de Leeuw, R. Fritsch-Stork, S. S. M. Kamphuis, Rachael D. Wright, Reem Abdawani, Laila Al Shaqshi, Ibrahim Al Zakwani, Natali W. Gormezano, David Kern, Oriany L. Pereira, Gladys C. C. Esteves, Adriana M. Sallum, Nadia E. Aikawa, Rosa M. Pereira, Clovis A. Silva, Eloisa Bonfa, Jessica Beckmann, Nora Bartholomä, Nils Venhoff, Philipp Henneke, Ulrich Salzer, Ales Janda, Alina Lucica Boteanu, Sandra Garrote Corral, Alberto Sifuentes Giraldo, Mariluz Gámir Gámir, Antonio Zea Mendoza, Amra Adrovic, Reyhan Dedeoglu, Sezgin Sahin, Kenan Barut, Aida Koka, Funda Oztunc, Ozgur Kasapcopur, Ana Luisa Rodriguez-Lozano, Francisco Rivas-Larrauri, Silvestre García de la Puente, Andressa G. F. Alves, Maria F. D. A. Giacomin, Juliana Farhat, Alfésio L. F. Braga, Adriana M. E. Sallum, Lúcia M. D. A. Campos, Luiz A. A. Pereira, Ana J. D. F. C. Lichtenfels, Clóvis A. Silva, Sylvia C. L. Farhat, Banu Acar, Z. Birsin Ozcakar, Nilgün Çakar, Nermin Uncu, Gökçe Gür, Semanur Özdel, Fatoş Yalçınkaya, Christiaan Scott, Nicky Brice, Peter Nourse, Christine Arango, Angela C. Mosquera, Clara Malagon, Ana P. Sakamoto, Marco F. C. D. Silva, Ananadreia S. Lopes, Gleice C. S. Russo, Adriana E. M. Sallum, Katia Kozu, Eloisa Bonfá, Claudia Saad-Magalhães, Rosa M. R. Pereira, Claudio A. Len, Maria T. Terreri, Deepti Suri, Siyaram Didel, Amit Rawat, Surjit Singh, Despoina Maritsi, MArgarita Onoufriou, Olga Vougiouka, Maria Tsolia, Edi Paleka Bosak, Mandica Vidović, Mirta Lamot, Lovro Lamot, Miroslav Harjaček, Erika Van Nieuwenhove, Adrian Liston, Carine Wouters, Fatemeh Tahghighi, Vahid Ziaee, Seid-Reza Raeeskarami, Francisca Aguiar, Sandra Pereira, Mariana Rodrigues, Cláudia Moura, Gustavo Rocha, Hercília Guimarães, Iva Brito, Rita Fonseca, Gerd Horneff, Ariane Klein, Kirsten Minden, Hans-Iko Huppertz, Frank Weller-Heinemann, Jasmin Kuemmerle-Deschner, J-Peter Haas, Anton Hospach, BIKER collaborative group, Ricardo Menendez-Castro, Boris Huegle, Johannes-Peter Haas, Joost Swart, Gabriella Giancane, Francesca Bovis, Elio Castagnola, Andreas Groll, Daniel J. Lovell, Tom Wolfs, Michael Hofer, Violeta Panaviene, Susan Nielsen, Jordi Anton, Florence Uettwiller, Valda Stanevicha, Maria Trachana, Denise Pires Marafon, Constantin Ailioaie, Elena Tsitsami, Sylvia Kamphuis, Troels Herlin, Pavla Doležalová, Gordana Susic, Berit Flatø, Flavio Sztajnbok, Angela Pistorio, Alberto Martini, Nico Wulffraat, Nicolino Ruperto, Marco Gattorno, Antonio Brucato, Martina Finetti, George Lazaros, Silvia Maestroni, Mara Carraro, Davide Cumetti, Alessandra Carobbio, Monia Lorini, Alessandro Rimini, Renzo Marcolongo, Anna Valenti, Gian Luca Erre, Riccardo Belli, Fiorenzo Gaita, Maria Pia Sormani, Massimo Imazio, Mario Abinun, Nicola Smith, Tim Rapley, Flora McErlane, Lianne Kearsley-Fleet, Kimme L. Hyrich, Helen Foster, Nikolay Tzaribachev, Andrew Zeft, Rolando Cimaz, John Bohnsack, Thomas Griffin, Ruy Carrasco, Jason Dare, Ivan Foeldvari, Richard Vehe, Teresa Simon, Hermine Brunner, S. Verazza, S. Davì, A. Consolaro, A. Insalaco, V. Gerloni, R. Cimaz, F. Zulian, S. Pastore, F. Corona, G. Conti, P. Barone, M. Cattalini, E. Cortis, L. Breda, A. N. Olivieri, A. Civino, R. Podda, D. Rigante, F. La Torre, G. D’Angelo, M. Jorini, R. Gallizzi, M. C. Maggio, R. Consolini, A. De Fanti, M. G. Alpigiani, A. Martini, A. Ravelli, on behalf of Italian Pediatric Rheumatology Study Group, Aysenur Pac Kısaarslan, Zubeyde Gunduz, Ruhan Dusunsel, Ismail Dursun, Hakan Poyrazoglu, Ekaterina Kuchinskaya, Farida Abduragimova, Mikhail Kostik, Erik Sundberg, Soley Omarsdottir, Lena Klevenvall, Helena Erlandsson-Harris, Gokalp Basbozkurt, Ozge Erdemli, Dogan Simsek, Fatih Yazici, Yildirim Karsioglu, Aysen Tezcaner, Dilek Keskin, Huseyin Ozkan, Cengizhan Acikel, Erkan Demirkaya, Ilonka Orbán, Krisztina Sevcic, Valentin Brodszky, Emese Kiss, Ismaiel A. Tekko, Madeleine Rooney, James McElnay, Cliff Taggart, Helen McCarthy, Ryan F. Donnelly, Drug Delivery Group, Mary Slatter, Zohreh Nademi, Mark Friswell, Sharmila Jandial, Terence Flood, Sophie Hambleton, Andrew Gennery, Andrew Cant, Phoi-Ngoc Duong, Isabelle Koné-Paut, Giovanni Filocamo, María Luz Gamir, Helga Sanner, Laura Carenini, Mesut Topdemir, Yildirim Karslioglu, Faysal Gok, Nadezhda Tsurikova, Elena Ligostaeva, Navdha R. Ramchurn, O. Kostareva, I. Nikishina, S. Arsenyeva, S. Rodionovskaya, M. Kaleda, D. Alexeev, Ismail Dursun Dursun, Sara Murias, Estefania Barral, Rosa Alcobendas, Eugenia Enriquez, Agustin Remesal, Jaime de Inocencio, Tania M. Castro, Simone A. Lotufo, Tatjana Freye, Raffaella Carlomagno, Thomas Zumbrunn, Jan Bonhoeffer, Elvira Cannizzaro Schneider, Daniela Kaiser, Michaël Hofer, Véronique Hentgen, Andreas Woerner, Juvenile Inflammatory Rheumatism (JIR) Cohort, Tobias Schwarz, Jens Klotsche, Martina Niewerth, Gerd Ganser, ICON study group, Jerold Jeyaratnam, Nienke ter Haar, Donato Rigante, Fatma Dedeoglu, Ezgi Baris, Sebastiaan Vastert, Joost Frenkel, Jonathan S. Hausmann, Kathleen G. Lomax, Ari Shapiro, Karen L. Durrant, P. A. Brogan, M. Hofer, J. B. Kuemmerle-Deschner, B. Lauwerys, A. Speziale, K. Leon, X. Wei, R. M. Laxer, Sara Signa, Marta Rusmini, Elena Campione, Sabrina Chiesa, Alice Grossi, Alessia Omenetti, Roberta Caorsi, Gianmaria Viglizzo, Isabella Ceccherini, Silvia Federici, Helen Lachmann, Nicola Ruperto, on behalf of PRINTO and Eurofever Registry, Federica Vanoni, on behalf of PRINTO and Eurofever Project, Sonia Melo Gomes, Ebun Omoyinmi, Juan I. Arostegui, Eva Gonzalez-Roca, Despina Eleftheriou, Nigel Klein, Paul Brogan, Stefano Volpi, Elettra Santori, Paolo Picco, Claudia Pastorino, Gillian Rice, Alessandra Tesser, Yanick Crow, Fabio Candotti, Ada B. Sinoplu, Gozde Yucel, Gizem Pamuk, Laura O. Damian, Cecilia Lazea, Mihaela Sparchez, Paulina Vele, Laura Muntean, Adriana Albu, Simona Rednic, Calin Lazar, Leonardo O. Mendonça, Alessandra Pontillo, Jorge Kalil, Fabio M. Castro, Myrthes T. Barros, Manuela Pardeo, Virginia Messia, Fabrizio De Benedetti, Antonella Insalaco, Giorgia Malighetti, Chiara Gorio, Francesca Ricci, Ilaria Parissenti, Paola Montesano, Barbara Bonafini, Veronica Medeghini, Marco Cattalini, Lucio Giordano, Giulia Zani, Rosalba Ferraro, Donatella Vairo, Silvia Giliani, Maria Cristina Maggio, Girolamo Luppino, Giovanni Corsello, Maria Isabel Gonzalez Fernandez, Berta Lopez Montesinos, Adriana Rodriguez Vidal, Juan I. Arostegui Gorospe, Inmaculada Calvo Penades, Nadia K. Rafiq, Karen Wynne, Khalid Hussain, Paul A. Brogan, Elizabeth Ang, Nicholas Ng, Ayla Kacar, Ozge Altug Gucenmez, Balahan Makay, Sevket Erbil Unsal, Yasin Sahin, Tufan Kutlu, Fugen Cullu-Cokugras, Hasret Ayyildiz-Civan, Tulay Erkan, Sana Al Zuhbi, Eiman Abdalla, Ricardo A. Russo, María M. Katsicas, Francesca Minoia, Angelo Ravelli, Sagar Bhattad, Anju Gupta, Vignesh Pandiarajan, Ritambhra Nada, Kaara Tiewsoh, Philip Hawkins, Dorota Rowczenio, Sarka Fingerhutova, Jana Franova, Leona Prochazkova, Eva Hlavackova, Pavla Dolezalova, Havva Evrengül, Selçuk Yüksel, Mustafa Doğan, Dolunay Gürses, Harun Evrengül, Silvia De Pauli, Serena Pastore, Anna Monica Bianco, Giovanni Maria Severini, Andrea Taddio, Alberto Tommasini, Svetlana O. Salugina, Evgeny Fedorov, Elena Kamenets, Ekaterina Zaharova, Tatiana Sleptsova, Ekaterina Alexeeva, Kirill Savostyanov, Alexander Pushkov, Tatyana Bzarova, Saniya Valieva, Rina Denisova, Kseniya Isayeva, Evgeniya Chistyakova, Margarita Soloshenko, Elena Kaschenko, Utako Kaneko, Chihaya Imai, Akihiko Saitoh, Vitor A. Teixeira, Filipa O. Ramos, Manuela Costa, Yonatan Butbul Aviel, Shafe Fahoum, Riva Brik, Zeynep Birsin Özçakar, Banu Acar Celikel, Fatos Yalcinkaya, Benedetta Schiappapietra, Sergio Davi’, Federica Mongini, Luisa Giannone, Cecilia Bava, Maria Giannina Alpigiani, Alessandro Consolaro, Dragana S. Lazarevic, Jelena Vojinovic, Jelena Basic, Valentina Muratore, Valentina Marzetti, Neus Quilis, Belen Serrano Benavente, Alessandra Alongi, Adele Civino, Lorenzo Quartulli, Giedre Januskeviciute, Pieter van Dijkhuizen, N. Groot, W. van Dijk, A. Kardolus, Raul Gutiérrez Suárez, Ellen B. Nordal, Veronika G. Rypdal, Lillemor Berntson, Maria Ekelund, Kristiina Aalto, Suvi Peltoniemi, Marek Zak, Mia Glerup, Ellen D. Arnstad, Anders Fasth, Marite Rygg, the Nordic Study Group of Pediatric Rheumatology (NoSPeR), Ana Catarina Duarte, Sandra Sousa, Lídia Teixeira, Ana Cordeiro, Mª José Santos, Ana Filipa Mourão, Maria José Santos, Mónica Eusébio, Ana Lopes, Filipa Oliveira-Ramos, Manuel Salgado, Paula Estanqueiro, José Melo-Gomes, Fernando Martins, José Costa, Carolina Furtado, Ricardo Figueira, Jaime C. Branco, João E. Fonseca, Helena Canhão, Ana F. Mourão, Maria Jose Santos, Andrea Coda, Samuel Cassidy, Kerry West, Gordon Hendry, Debra Grech, Julie Jones, Fiona Hawke, Davinder Singh Grewal, Charlene Foley, Orla Killeen, Emma MacDermott, Douglas Veale, Ursula Fearon, Dilek Konukbay, Ela Tarakci, Nilay Arman, Sezgin Şahin, Jane Munro, Esi Morgan, Meredith Riebschleger, Jennifer Horonjeff, Vibeke Strand, Clifton Bingham, Ma. Theresa M. Collante, Margarita Ganeva, Stefan Stefanov, Albena Telcharova, Dimitrina Mihaylova, Radoslava Saraeva, Reni Tzveova, Radka Kaneva, Adelina Tsakova, Katya Temelkova, GRANT Medical University, Sofia 68/, Maria Mercedes C. Picarelli, Luiz C. Danzmann, Florencia Barbé-Tuana, Lucas K. Grun, Marcus H. Jones, Marijan Frković, Karla Ištuk, Ika Birkić, Saša Sršen, Marija Jelušić, Alan Easton, Rachael Quarmby, Raju Khubchandani, Mercedes Chan, Radoslav Srp, Katerina Kobrova, Dana Nemcova, Jozef Hoza, Michal Uher, Melania Saifridova, Lenka Linkova, Sirirat Charuvanij, Isree Leelayuwattanakul, Thita Pacharapakornpong, Sakda A.-O. Vallipakorn, Butsabong Lerkvaleekul, Soamarat Vilaiyuk, Stefano Lanni, Sergio Davì, Randy Q. Cron, Chiara Passarelli, Elisa Pisaneschi, Antonio Novelli, Claudia Bracaglia, Ivan Caiello, Kathy de Graaf, Florence Guilhot, Walter Ferlin, Grant Schulert, Alexi A. Grom, Robert Nelson, Cristina de Min, Dirk Holzinger, Christoph Kessel, Ndate Fall, Alexei Grom, Wilco de Jager, Raffaele Strippoli, Anna Horne, Stephan Ehl, Sandra Ammann, Kai Lehmberg, Karin Beutel, Dirk Foell, AnnaCarin Horne, Laura Pagani, Graciela Espada, Yi-jin Gao, Susan Shenoi, Sheila Weitzman, Giusi Prencipe, Antonia Pascarella, Walter G. Ferlin, Laurence Chatel, Philippe Jacqmin, Kathy De Graaf, Maria Ballabio, Zoë Johnson, Geneviève Lapeyre, Fabrizio de Benedetti, de Min Cristina, Hiroyuki Wakiguchi, Shunji Hasegawa, Reiji Hirano, Fumiko Okazaki, Tamaki Nakamura, Hidenobu Kaneyasu, Shouichi Ohga, Kazuko Yamazaki, Tomo Nozawa, Taichi Kanetaka, Shuichi Ito, Shumpei Yokota, Kirsty McLellan, Ishbel MacGregor, Neil Martin, Joyce Davidson, Sandra Hansmann, Andreas Eikelberg, Iris Haug, Sabrina Schuller, Susanne M. Benseler, Single Hub and Access point for paediatric Rheumatology in Europe (SHARE), Liliia S. Nazarova, Kseniia V. Danilko, Viktor A. Malievsky, Tatiana V. Viktorova, Angela Mauro, Angela Barnicoat, Jane Hurst, Nathalie Canham, Sandrine Lacassagne, Anastasia Wiener, Boris Hügle, Bernd Denecke, Ivan Costa-Filho, Johannes Peter Haas, Klaus Tenbrock, David Popp, Arjan Boltjes, Frank Rühle, Stefanie Herresthal, Femke van Wijk, Joachim Schultze, Monika Stoll, Luisa Klotz, Thomas Vogl, Johannes Roth, Estefania Quesada-Masachs, Daniel Álvarez de la Sierra, Marina Garcia Prat, Ana M. Marín Sánchez, Ricardo Pujol Borrell, Sara Marsal Barril, Mónica Martínez Gallo, Consuelo Modesto Caballero, Iryna Chyzheuskaya, Lyudmyla M. Byelyaeva, Rostislav M. Filonovich, Helena K. Khrustaleva, Larisa I. Zajtseva, Tamara M. Yuraga, Thomas Giner, Lukas Hackl, Julia Albrecht, Reinhard Würzner, Juergen Brunner, Marta Minute, Fulvio Parentin, Agostino Nocerino, Mette Nørgaard, Mikel Alberdi-Saugstrup, Marek S. Zak, Susan M. Nielsen, Ellen Nordal, Klaus G. Müller, Nordic Study Group of Pediatric Rheumatology (NoSPeR), Mojca Zajc Avramovič, Vita Dolžan, Nataša Toplak, Tadej Avčin, N. Ruperto, D. J. Lovell, C. Wallace, M. Toth, I. Foeldvari, J. Bohnsack, D. Milojevic, C. Rabinovich, D. Kingsbury, K. Marzan, P. Quartier, K. Minden, E. Chalom, G. Horneff, R. M. Kuester, J. Dare, M. Heinrich, H. Kupper, J. Kalabic, H. I. Brunner, on behalf of PRINTO and PRCSG, Ruben Burgos-Vargas, Tamas Constantin, Joke Dehoorne, Valda Stanevica, Katarzyna Kobusinska, Zbigniew Zuber, Richard Mouy, Ingrida Rumba-Rozenfelde, Chantal Job-Deslandre, Ronald Pederson, Jack Bukowski, Tina Hinnershitz, Bonnie Vlahos, Paula Keskitalo, Salla Kangas, Paula Vähäsalo, Raul A. Chavez Valencia, David Martino, Anne-Louise Ponsonby, Rachel Chiaroni-Clarke, Braydon Meyer, Roger C. Allen, Jonathan D. Akikusa, Jeffrey M. Craig, Richard Saffrey, Justine A. Ellis, Carol Wallace, Yosef Uziel, Gary Sterba, Rayfel Schneider, Ricardo Russo, Athimalaipet V. Ramanan, Jana Pachlopnik Schmid, Kim E Nichols, Paivi Miettunen, Toshiyuki Kitoh, Norman T. Ilowite, Jan-Inge Henter, Alexei A Grom, Edward M. Behrens, Tadej Avcin, Maurizio Aricò, Sriharsha Grevich, Peggy Lee, Sarah Ringold, Brian Leroux, Hannah Leahey, Megan Yuasa, Jessica Foster, Jeremy Sokolove, Lauren Lahey, William Robinson, Joshua Newson, Anne Stevens, Stephanie J. W. Shoop, Suzanne M. M. Verstappen, Wendy Thomson, Janet E. McDonagh, CAPS, Timothy Beukelman, Yuki Kimura, Marc Natter, Norm Ilowite, Kelly Mieszkalski, Grendel Burrell, Brian Best, Helen Bristow, Shannon Carr, Anne Dennos, Rachel Kaufmann, Laura Schanberg, for the CARRA Registry Investigators, Gabriele Simonini, Francesca Lancini, Margaux Gerbaux, Phu-Quoc Lê, Laurence Goffin, Valérie Badot, Céline La, Laure Caspers, François Willermain, Alina Ferster, Maria Ceci, Francesco Licciardi, Marco Turco, Francesca Santarelli, Davide Montin, Claudia Toppino, Clotilde Alizzi, Bruno Papia, Beatrice Vergara, Umberto Corpora, Luca Messina, Maria Tsinti, Vasiliko Dermentzoglou, Panagiotis Tziavas, Marija Perica, Lana Tambić Bukovac, Mustafa Çakan, Nuray Aktay Ayaz, Gonca Keskindemirci, Michael Lang, Catherine Laing, Susanne Benseler, Tommy Gerschman, Nadia Luca, Heinrike Schmeling, Anastasia Dropol, Jaymi Taiani, Nicole Johnson, Brian Rusted, Panagiota Nalbanti, Polyxeni Pratsidou, Grigoris Pardalos, Vasiliki Tzimouli, Anna Taparkou, Maria Stavrakidou, Fotios Papachristou, Florence Kanakoudi-Tsakalidou, Peter Bale, Emily Robinson, Jason Palman, Elizabeth Ralph, Kimberly Gilmour, Clare Heard, Lucy R. Wedderburn, Yara Barrense-Dias, Antonarakis Gregory, Dhouib Amira, Scolozzi Paolo, Hanquinet Sylviane, Hofer Michaël, Nataliya Panko, Salah Shokry, Liudmila Rakovska, Sally Pino, Adriana Diaz-Maldonado, Pilar Guarnizo, Sofia Torreggiani, Paolo Cressoni, Umberto Garagiola, Giancarla Di Landro, Giampietro Farronato, Fabrizia Corona, Samantha Bell, Parveen Bhatti, Lee Nelson, Beth A. Mueller, T. A. Simon, A. Baheti, N. Ray, Z. Guo, Anasuya Hazra, Thomas Stock, Ronnie Wang, Charles Mebus, Christine Alvey, Manisha Lamba, Sriram Krishnaswami, Umberto Conte, Min Wang, Daniel Kingsbury, Elena Koskova, Elzbieta Smolewska, Richard K. Vehe, Daniel Lovell, Tomohiro Kubota, Junko Yasumura, Toshitaka Kizawa, Masato Yashiro, Tsuyoshi Yamatou, Yuichi Yamasaki, Syuji Takei, Yoshifumi Kawano, Ulrika Järpemo Nykvist, Bo Magnusson, Rikard Wicksell, Karin Palmblad, Gunnar L. Olsson, Mohammadreza Modaressi, Mohammad-Hassan Moradinejad, Valentina Seraya, Alisa Vitebskaya, Veronica Moshe, Gil Amarilyo, Liora Harel, Phillip J Hashkes, Amir Mendelson, Noa Rabinowicz, Yonit Reis, Zane Dāvidsone, Arina Lazareva, Ruta Šantere, Dace Bērziņa, Valda Staņēviča, Giulia Camilla Varnier, Susan Maillard, Cristina Ferrari, Silvia Zaffarano, Juvenile Dermatomyositis Research Group and European Federation of Immunological Societies, Judith Wienke, Felicitas Bellutti Enders, Lucas L. van den Hoogen, Jorre S. Mertens, Timothy R. Radstake, Henny G. Hotten, Ruth Fritsch, Lucy Wedderburn, Kiran Nistala, Berent Prakken, Annet van Royen-Kerkhof, Mohammad Alhemairi, Mohammed Muzaffer, Pieter Van Dijkhuizen, Claire T. Deakin, Stefania Simou, Maria De Iorio, Qiong Wu, Tania Amin, Lee Dossetter, Juvenile Dermatomyositis Research Group (JDRG), Raquel Campanilho-Marques, Claire Deakin, Clarissa A. Pilkington, on behalf of Juvenile Dermatomyositis Research Group (JDRG), Silvia Rosina, Sirisucha Soponkanaporn, on behalf of the UK Juvenile Dermatomyositis Research Group (JDRG), Zehra S. Arıcı, Gökçen D. Tuğcu, Ezgi D. Batu, Hafize E. Sönmez, Deniz Doğru-Ersöz, Beril Talim, Nural Kiper, Seza Özen, Alexander Solyom, Ezgi Batu, John Mitchell, Ariana Kariminejad, Fatemeh Hadipour, Zahra Hadipour, Marta Torcoletti, Carlo Agostoni, Maja Di Rocco, Pranoot Tanpaiboon, Andrea Superti-Furga, Luisa Bonafé, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Giedre Grigelioniene, Ratna Puri, Edward Schuchman, Pilar Gomez, Tatiana Gonzalez, Ricardo Yepez, Camilo Vargas, GRIP study group, Falcini Fernanda, Gemma Lepri, Alessandra Ferrari, Marco Matucci-Cerinic, Antonella Meini, Gian Marco Moneta, Emiliano Marasco, Rebecca Nicolai, Luisa Bracci-Laudiero, Olga Kopchak, Alexander Mushkin, Alexey Maletin, Catalina Mosquera, Rita A. Amorim, Juliana Molina, Gustavo Moreira, Flávia H. Santos, Melissa Fraga, Livia Keppeke, Vanessa M. Silva, Camila Hirotsu, Sergio Tufik, Maria Teresa Terreri, Vinícius L. Braga, Maria Beatriz Fonseca, Vania Schinzel, Maria Teresa R. Terreri, Liliana Jorge, Liana Guerra, Edson Amaro Junior, Maria Cristina Castiglione, Alessandra Tricarico, Emily Boulter, Andre Schultz, Kevin Murray, Fernanda Falcini, Stefano Stagi, Eleonora Bellucci, Ingrid H. R. Grein, Gecilmara Pileggi, Natália B. F. Pinto, Aline L. de Oliveira, Lyudmila Belyaeva, Rostislav Filonovich, Helena Khrustaleva, Larisa Zajtseva, Jaanika Ilisson, Chris Pruunsild, Olivier Gilliaux, Francis Corazza, Christophe Lelubre, on behalf of PANLAR Pediatric Rheumatology Study Group, Zoilo Morel, Claudia Saad-Magalhães C, Luis Lira, Mabel Ladino, Ruth Eraso, Ivonne Arroyo, Clovis Silva, Carlos Rose, and PANLAR Pediatric Rheumatology Study Group

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2017
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5. Yunis-Varón Syndrome: The First Report of Two Iranian Cases

Author

Zahra Hadipour, Yousef Shafeghati, and Fatemeh Hadipour

Subjects
Congenital heart diseases, Hypoplastic thumb, phalanges and clavicles, Yunis-Varón syndrome, Medicine (General), R5-920
Abstract

The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varón syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypoplastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varón syndrome.

Published
2014

6. Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family

Author

Fatemeh Hadipour, Yousef Shafeghati, Eiman Bagherizadeh, Farkhondeh Behjati, and Zahra Hadipour

Subjects
49 XXXXY, Fraccaro syndrome, Facial dysmorphism, Skeletal anomalies, Medicine (General), R5-920
Abstract

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.

Published
2013

7. Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran

Author

Hossein, Moravej, Soroor, Inaloo, Saman, Nahid, Shokrollah, Mazloumi, Hamid, Nemati, Toktam, Moosavian, Jafar, Nasiri, Fariba, Ghasemi, Mohammad Reza, Alaei, Setila, Dalili, Majid, Aminzadeh, Pegah, Katibeh, Anis, Amirhakimi, Negar, Yazdani, Homa, Ilkhanipoor, Zhila, Afshar, Fatemeh, Hadipour, and Zahra, Hadipour

Subjects
Pediatrics, Perinatology and Child Health
Abstract

This study aimed to find the common inborn errors of metabolism in Iranian patients with autism spectrum disorder.In this cross-sectional multicenter study, 105 children and adolescents with autism spectrum disorder from six centers in different cities of Iran were enrolled between August, 2019 and October, 2020. Metabolic screening, including measuring plasma levels of amino acids, acylcarnitines, creatine, and guanidinoacetate, and urinary levels of organic acids, purines, and pyrimidines was performed. Other data, including age, parental consanguinity, history of seizure, developmental mile-stones, and physical examination, were also recorded.An inborn error of metabolism was found in 13 (12.4%) patients. Five patients (4.8%) had cerebral creatine deficiency syndrome, four (3.8%) had arginine succinate aciduria, 2 methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria. There was a strong association between positive metabolic evaluation and parental consanguinity, history of seizures, microcephaly, and delayed development.Our results suggest that metabolic screening should be performed in the cases of autism associated with parental consanguinity, developmental delay, and a history of seizures. The assays to be considered as a screening panel include plasma or blood amino acids, acylcarnitines, creatine and guanidinoacetate, and urinary levels of organic acids.

Published
2023

8. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Author

Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, and Ronja Hotakainen

Subjects
Candidate gene, Base Sequence, medicine.diagnostic_test, Nerve Tissue Proteins, Disease, Computational biology, Biology, medicine.disease, Article, DNA sequencing, Phenotype, Intellectual Disability, Exome Sequencing, Intellectual disability, Human Phenotype Ontology, medicine, Humans, Exome, Gene, Genetics (clinical), Genetic testing
Abstract

Purpose Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We followed two approaches: (1) a patient-centered approach, which after routine diagnostic analysis systematically interrogates variants in genes not yet associated to human diseases; and (2) a gene variant centered approach. For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disability (ID), which are the most common reasons for genetic testing referrals. Gene–disease association was assessed using our data repository that combines ES/GS data and Human Phenotype Ontology terms from over 33,000 patients. Results We propose six novel gene–disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes. Furthermore, our results support causality of 31 additional candidate genes that had little published evidence and no registered OMIM phenotype (56 patients). The phenotypes included syndromic/nonsyndromic NDD/ID, oral–facial–digital syndrome, cardiomyopathies, malformation syndrome, short stature, skeletal dysplasia, and ciliary dyskinesia. Conclusion Our results demonstrate the value of data repositories which combine clinical and genetic data for discovering and confirming gene–disease associations. Genetic laboratories should be encouraged to pursue such analyses for the benefit of undiagnosed patients and their families.

Published
2021

9. The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Author

Fellype C. Barreto, Nan Chen, Huda Al Khawaja, Faisal Al Ismaili, Dau-Ming Niu, Sergey Moiseev, Gheona Altarescu, Sergey Kutsev, Sheela Nampoothiri, Mirelle Kramis, Long-Sun Ro, Juan Politei, Dominique P. Germain, Farid Haddoum, Fernando Suárez-Obando, Irina Maksimova, Dung Vu Chi, Khanh Ngoc Nguyen, Fatemeh Hadipour, Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), First Faculty of Medicine Charles University [Prague], Sanofi Genzyme, D.P. Germain has received honoraria and consulting fees from Amicus Therapeutics, Sanofi Genzyme, and Takeda. S. Moiseev has received travel grants and/or fees for participation in advisory boards from Sanofi Genzyme and Takeda. G. Altarescu has received speaker honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda. F.C. Barreto has received speaker honoraria from Sanofi Genzyme. I. Maksimova is an employee of Sanofi Genzyme. M. Kramis has received honoraria as scientific advisor and speaker from Sanofi Genzyme. S. Nampoothiri has received honoraria for travel and attending advisory boards from Sanofi Genzyme. D‐M. Niu has received research funding from Sanofi Genzyme and Takeda. J. Politei has received honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda and consulting fees from Sanofi Genzyme and Takeda. S. Kutsev has received honoraria from Sanofi Genzyme. F. Suárez‐Obando, F. Al Ismaili, F. Haddoum, L‐S. Ro, and N. Chen have received honoraria for travel and advisory board attendance from Sanofi Genzyme. H. Al Khawaja, F. Hadipour, K.N. Nguyen, and D. Vu Chi declare no conflicts of interest., and The advisory board meeting was organized and funded by Sanofi Genzyme. The attendees recommended that the information that was shared and discussed would be useful to inform healthcare professionals and suggested preparation of a publication. The authors received editorial/writing support in the preparation of this manuscript from Tom Rouwette, PhD, of Excerpta Medica, funded by Sanofi Genzyme, but no payment for writing this publication. The authors are responsible for the content of this manuscript and the decision to submit the manuscript for publication.

Subjects
0301 basic medicine, medicine.medical_specialty, pedigree drawing, Population, rare disease, Disease, Review Article, QH426-470, 030105 genetics & heredity, Social issues, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Testing, Intensive care medicine, education, Molecular Biology, Genotyping, Review Articles, Genetics (clinical), Genetic testing, education.field_of_study, Newborn screening, Fabry disease, medicine.diagnostic_test, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, cascade genotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, at‐risk populations screening, family genetic testing, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, at-risk populations screening, Rare disease, early diagnosis
Abstract

Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end‐stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non‐specificity of early symptoms. Newborn screening and screening of at‐risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise. Methods We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts’ own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries. Results There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists. Conclusion In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases., This review article discusses the literature published on family genetic testing for Fabry disease and the experiences of 19 Fabry experts from 15 countries regarding family screening in their countries and the barriers they are facing. Together, this literature overview and combined global experience provides valuable insights to medical geneticists working to improve the diagnosis of rare diseases within their countries and globally.

Published
2021

10. Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Author

Farkhondeh Behjati, Saeed Farajzadeh Valilou, Susan Banihashemi, Seyed Gholamreza Noorazar, Fatemeh Hadipour, Mahshid Fattahi, Ahoura Nozari, Mahdiyeh Pashaei, Zahra Hadipour, Javad Karimian, Bijan Maghsoodlou Estrabadi, Afagh Alavi, Yousef Shafeghati, and Saghar Ghasemi Firouzabadi

Subjects
Genetics, Proband, Biology, medicine.disease, SNP genotyping, Developmental disorder, Neurodevelopmental disorder, Autism spectrum disorder, mental disorders, medicine, Autism, Original Article, Sibling, Genetics (clinical), Exome sequencing
Abstract

Autism spectrum disorder (ASD) is characterized by 3 core symptoms with impaired social communication, repetitive behavior, and/or restricted interests in early childhood. As a complex neurodevelopmental disorder (NDD), the phenotype and severity of autism are extremely heterogeneous. Genetic factors have a key role in the etiology of autism. In this study, we investigated an Azeri Turkish family with 2 ASD-affected individuals to identify probable ASD-causing variants. First, the affected individuals were karyotyped in order to exclude chromosomal abnormalities. Then, whole-exome sequencing was carried out in one affected sibling followed by cosegregation analysis for the candidate variants in the family. In addition, SNP genotyping was carried out in the patients to identify possible homozygosity regions. Both proband and sibling had a normal karyotype. We detected 3 possible causative variants in this family: c.5443G>A; p.Gly1815Ser, c.1027C>T; p.Arg343Trp, and c.382A>G; p.Lys128Glu, which are in the FBN1, TF, and PLOD2 genes, respectively. All of the variants cosegregated in the family, and SNP genotyping revealed that these 3 variants are located in the homozygosity regions. This family serves as an example of a multimodal polygenic risk for a complex developmental disorder. Of these 3 genes, confluence of the variants in FBN1 and PLOD2 may contribute to the autistic features of the patient in addition to skeletal problems. Our study highlights the genetic complexity and heterogeneity of NDDs such as autism. In other words, in some patients with ASD, multiple rare variants in different loci rather than a monogenic state may contribute to the development of phenotypes.

Published
2020

11. Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study

Author

Filipa Curado, Ulrike Grittner, Volha Skrahina, Ahmed Malik, Christian Beetz, Tama Dinur, Nadeem Anjum, Yamna Krioule, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, and Arndt Rolfs

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published
2022

13. The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease

Author

Huda Al-Khawaja, Gheona Altarescu, Mirelle Kramis, Fellype C. Barreto, Dominique P. Germain, Long-Sun Ro, Juan Politei, Faisal Al Ismaili, Sheela Nampoothiri, Sergey Kutsev, Sergey Moiseev, Farid Haddoum, Fernando Suárez-Obando, Fatemeh Hadipour, Dung C. Vu, and Dau-Ming Niu

Subjects
Gerontology, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry, Fabry disease, Regional differences
Published
2020

14. Osteogenesis Imperfecta or Fanconi-Bickel Syndrome? (Report of a Very Rare Disease Due to New Mutation on GLUT2 Gene)

Author

Taghi Baghdadi, Y. Shafaghati, P. Sarkheil, Fatemeh Hadipour, Mehrdad Noruzinia, and Zahra Hadipour

Subjects
0301 basic medicine, Genetics, 030219 obstetrics & reproductive medicine, business.industry, medicine.disease, Fanconi-Bickel syndrome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Osteogenesis imperfecta, New mutation, Medicine, business, Gene, Rare disease
Published
2016

15. Cytogenetic Study in Patients with Ambiguous Genitalia

Author

M. Asami, A. Abdi, Nesa Zarbati, Y. Shafaghati, Zahra Hadipour, Farkhondeh Behjati, I. Bagherizadeh, and Fatemeh Hadipour

Subjects
Ambiguous genitalia, medicine.medical_specialty, business.industry, Medicine, In patient, business, Dermatology
Published
2016

16. A Rare Triploidy Case with Long Term Survival: A Case Report Study

Author

Farkhondeh Behjati, S. Hoseinali Saberi, Shahla Chaichian, Mahshad Asami, Nasrin Mohammadkhani, Yousef Shafeghati, Meisam Akhlaghdoust, Banafsheh Nikfar, Nesa Zarbati, Narges Vasei, Fatemeh Hadipour, and Zahra Hadipour

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, G banding, Chromosome, Karyotype, General Medicine, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030225 pediatrics, Peripheral blood lymphocyte, Skin biopsy, Biopsy, medicine, Chromosome abnormality, business, Fluorescence in situ hybridization
Abstract

Triploidy is the most frequent chromosome abnormality in the gestational age. According to the study, survival of more than 2 months in triploid patients is very rare. A 7-year-old girl with mild mental retardation with dysmorphism was referred for genetic counseling and clinical evaluation to Sarem medical genetics department (Tehran, Iran, 2013). Clinical features of the child were mental retardation, prominent upper lip, microgenitalia, prominent forehead, foot fingers syndactyly, and short hypoplastic 5th finger. G banding technique, skin biopsy, and Fluorescence in situ hybridization (FISH) testing were performed. Brain Imaging was evaluated. The karyotype of patient showed triploid (69, XXX) chromosome complement in all the metaphase spreads. However, two cell lines were found in metaphase of cultured cutaneous biopsy. The majority of the cells the body were triploid (69, XXX) and 16% of cells were diploid (46, XX). Findings of the FISH testing using X and Y Satellite enumeration probes in all studied peripheral blood lymphocyte (PBL) cells, included 3 signals and none signal respectively indicating X and Y chromosomes. Also, cultured of cutaneous biopsy finding showed 66% of cells had three signals (triploid) and 34 percent of cells had two signals (diploid) and mosaicism was confirmed. Karyotypes of parents and the brain imaging were normal. This study presents a rare case of triploidy with long survival with normal karyotypes of PBL and mosaicism in skin biopsy and interphase FISH.

Published
2017

17. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

Author

David Kern, Masato Yashiro, Gerd Horneff, Ana P. Sakamoto, Berent J. Prakken, Paula Vähäsalo, Juergen Brunner, Ezgi H. Baris, Helen McCarthy, Janet E. McDonagh, A. Grom, Adriana Albu, Lenka Linkova, I. Nikishina, Daniel Álvarez de la Sierra, Bruno Papia, Peggy Lee, Luisa Giannone, Tobias Schwarz, Mekibib Altaye, Margarita Onoufriou, Tatiana Sleptsova, N. Ruperto, O Thana, A. Baheti, Ilonka Orbán, Kai Lehmberg, F. Zulian, Helga Sanner, Karin Palmblad, Kousuke Shabana, Sebastiaan Vastert, Marta Rusmini, Olga Vougiouka, Dirk Holzinger, D. Shaikhani, Shouichi Ohga, Ismail Dursun Dursun, Claire T Deakin, Ingrid Herta Rotstein Grein, Maria Trachana, Ariane Klein, Eugenia Enriquez, Angelo Ravelli, Paul A. Brogan, L.S. Nazarova, Laila Al Shaqshi, Paulina Vele, Liana Guerra, Antonia Pascarella, Jelena Vojinovic, Juliana Molina, Kjell Tullus, S. Rodionovskaya, Chris Scott, A. N. Olivieri, Cliff Taggart, Clare Heard, Ricardo Pujol Borrell, Jens Klotsche, Grendel Burrell, Oriany L. Pereira, Silvia Giliani, Sandra Pereira, Jennifer Horonjeff, Beth A. Mueller, Lyudmyla M. Byelyaeva, Sergio Tufik, Carlo Agostoni, Valentina Muratore, Rostislav M. Filonovich, Fiona Hawke, Virginia Messia, Bo Magnusson, Kerry West, Sara Murias, Mustafa Doğan, Hafize Emine Sönmez, Annet van Royen-Kerkhof, K. Minden, Raquel Campanilho-Marques, Reem Abdawani, Maria Ceci, Maria Ekelund, Seza Ozen, Ratna Puri, Girolamo Luppino, Shannon Carr, Rita A. Amorim, K Kobrová, Rachael D. Wright, Chantal Job-Deslandre, Daniel J. Lovell, Jorge Kalil, Yi-jin Gao, Kubra Ozturk, Fulvio Parentin, Ursula Fearon, Frank Weller-Heinemann, Elizabeth Ang, Charles A Mebus, Andrea Superti-Furga, Alina Ferster, Rikard Wicksell, Mohammadreza Modaressi, F La Torre, Ela Tarakci, Wendy Thomson, Giorgia Malighetti, Antonio Eleuteri, Helena K. Khrustaleva, Alan Easton, Alexander Mushkin, Sara Marsal Barril, Erkan Demirkaya, Florence Kanakoudi-Tsakalidou, Diana Ekdawy, Lana Tambić Bukovac, Suvi Peltoniemi, Nur Arslan, Hermine I. Brunner, Tim Rapley, Donatella Vairo, Kirill Savostyanov, Fumiko Okazaki, Rachel Corkhill, Tufan Kutlu, MG Alpigiani, Fabio Fernandes Morato Castro, Juliana Farhat, Butsabong Lerkvaleekul, Scolozzi Paolo, Akihiko Saitoh, Jason Dare, Gustavo Rocha, Tatiana V. Viktorova, Riva Brik, Jason Palman, Fabrizia Corona, Susan Nielsen, Johannes Roth, Ma. Theresa M. Collante, Leonardo Oliveira Mendonça, D. Alexeev, Randy Q. Cron, Sriharsha Grevich, Andrea L. Jorgensen, Lúcia Maria de Arruda Campos, Kiran Nistala, Fernando Martins, R. Cimaz, Angela C. Mosquera, Ruy Carrasco, Reyhan Dedeoglu, Giovanni Filocamo, J. Dare, Paula Keskitalo, Ana J. D. F. C. Lichtenfels, Florence Uettwiller, Umberto Conte, Gecilmara Salviato Pileggi, Michal Uher, Mercedes Chan, Sarka Fingerhutova, Anne M. Stevens, Peter Bale, Mikel Alberdi-Saugstrup, Olga L Kopchak, Thomas A. Griffin, Constantin Ailioaie, Clifton Bingham, Ekaterina Alexeeva, Loshinidevi D Bathi, Jane Hurst, AnnaCarin Horne, Laura Muntean, Nermin Uncu, Mara Carraro, C Vargas, Lorenzo Quartulli, Ayşenur Paç Kısaarslan, Angela Mauro, F. Corona, Donato Rigante, Helen J. Lachmann, Ana Cordeiro, Ivan Foeldvari, Faysal Gok, Tatiana Gonzalez, S. S. M. Kamphuis, Hasret Ayyildiz-Civan, Claudia Pastorino, Gleice C. S. Russo, J. B. Kuemmerle-Deschner, Serena Pastore, Nigel Klein, M. Jorini, Tatjana Freye, Maria Tsolia, Philippe Jacqmin, Suzanne M M Verstappen, Syuji Takei, Khalid Hussain, Renzo Marcolongo, Yuichi Yamasaki, Sharmila Jandial, K. Leon, Maria Pia Sormani, T. A. Simon, Mohammed Muzaffer, Catalina Mosquera, Clovis Aa Silva, Zelal Ekinci, Zübeyde Gündüz, Bernd Denecke, Felicitas Bellutti Enders, Despina Eleftheriou, Ishbel MacGregor, Andrew Cant, Luisa Bonafé, Valda Staņēviča, Helen E. Foster, Alberto Tommasini, Nora Bartholomä, Nural Kiper, A. Kardolus, Eloisa Bonfa, Alessandro Consolaro, Lillemor Berntson, Umberto Garagiola, Richard K. Vehe, Vanessa Bugni Miotto e Silva, Chihaya Imai, Kathleen G. Lomax, Brian Best, Barbara Bonafini, M. Toth, D. Rigante, Eiman Abdalla, Leona Prochazkova, Lucy Wedderburn, Lovro Lamot, S. Verazza, Raffaella Carlomagno, Gillian I. Rice, Norm Ilowite, K. de Leeuw, Havva Evrengül, Jerold Jeyaratnam, Andrew Zeft, Andrea Taddio, R. Podda, Samuel Cassidy, Grant S. Schulert, Silvia Rosina, Marija Jelušić, Olivier Gilliaux, Rubén Burgos-Vargas, Mao Mizuta, Akihiro Yachie, Angel Phuti, Antonio Zea Mendoza, Emily Boulter, Zane Dāvidsone, Sofia Torreggiani, Marco Cattalini, Natali W. Gormezano, Fatma Dedeoglu, Hercília Guimarães, A. Insalaco, Andrea Coda, Viktor A. Malievsky, Thomas Zumbrunn, Agostino Nocerino, Ronald Pederson, Katarzyna Kobusinska, Anasuya Hazra, Ananadreia S. Lopes, Elena Campione, Toshiyuki Kitoh, Elena Tsitsami, Henny G. Hotten, Radka Kaneva, R. J. E. M. Dolhain, Ndate Fall, Francesco Licciardi, Deepti Suri, G. D’Angelo, Valentina Seraya, Elżbieta Smolewska, Anastasia Dropol, Ezgi Deniz Batu, Andreas Woerner, Christine Arango, Nadia E. Aikawa, Zoilo Morel, Megan Yuasa, Sandra Ammann, Erbil Unsal, Tomohiro Kubota, Toshitaka Kizawa, Fabrizio De Benedetti, Catherine Laing, Liudmila Rakovska, Yonatan Butbul Aviel, J-Peter Haas, Marta Minute, Christine Alvey, Vasiliko Dermentzoglou, Vania Schinzel, Isree Leelayuwattanakul, Ekim Taskiran, Gabriele Simonini, N. Martin, Nathalie Canham, Nicky Brice, Beatrice Vergara, Ika Birkić, Cengizhan Acikel, Johannes-Peter Haas, Ruth Fritsch, Alisa Vitebskaya, Fatih Yazici, Iva Brito, Nataša Toplak, Veronica Moshe, Gordon J Hendry, Nadia Luca, Deniz Doğru-Ersöz, Marco Matucci-Cerinic, Claudia Toppino, Zoë Johnson, Beatrice Goilav, Siyaram Didel, K. Marzan, Tamar B. Rubinstein, Angela Barnicoat, Peter Nourse, Thita Pacharapakornpong, Adele Civino, Inmaculada Calvo Penades, H. I. Brunner, Massimo Imazio, V. Gerloni, Ayla Kacar, Heinrike Schmeling, Marija Perica, Silvestre García de la Puente, Tadej Avcin, Filipa Oliveira-Ramos, S. Arsenyeva, Phillip J Hashkes, Sabrina Schuller, Adriana Rodriguez Vidal, Kathy de Graaf, Giedre Januskeviciute, M. Kaleda, Lee Dossetter, Jelena Basic, Elena Kaschenko, Erik Sundberg, Gizem Pamuk, Marek Zak, I. Foeldvari, Rachael Quarmby, Marc D. Natter, Antonarakis Gregory, P. A. Brogan, João Eurico Fonseca, Andrea Jorgensen, Ana F. Mourão, Gaurav Gulati, Yelda Bilginer, Banu Acar Celikel, Utako Kaneko, Karen L. Durrant, Alice Grossi, Maurizio Aricò, Ibrahim Al Zakwani, Yildirim Karslioglu, Takuji Murata, Monika Stoll, Maria Teresa Terreri, Ariana Kariminejad, Teresa A. Simon, Laura B Lewandowski, Marina Garcia Prat, Walter G. Ferlin, Albena Telcharova, Giovanni Maria Severini, Judith Wienke, Panagiota Nalbanti, Hakan Poyrazoglu, Athimalaipet V. Ramanan, Manisha Lamba, Z. Guo, J. Bohnsack, Norberto Guelbert, John F. Bohnsack, Lucy R. Wedderburn, Elvira Cannizzaro Schneider, Raul Gutiérrez Suárez, Debra Grech, Yonit Reis, Chris Pruunsild, Amit Rawat, Nienke M. ter Haar, Hiroshi Tamai, Alexander Pushkov, A. De Fanti, Valentina Marzetti, Sheila Weitzman, I. E. M. Bultink, Dilek Keskin, Sania Valieva, Klaus Tenbrock, Ana Luisa Rodriguez-Lozano, Lianne Kearsley-Fleet, Luca Messina, Chiara Gorio, Amra Adrovic, Stephanie J. W. Shoop, Davide Cumetti, Sana Al Zuhbi, Helena Khrustaleva, E. Zirkzee, Elio Castagnola, Clarissa Pilkington, Jingyao Leong, Vitor A. Teixeira, Reinhard Würzner, Sonia Melo Gomes, Orla Killeen, Antony C. Fisher, Sevket Erbil Unsal, Edward M. Behrens, Kristiina Aalto, Rebecca Nicolai, Thomas C. Stock, Luiz Cláudio Danzmann, Y. K. O. Teng, Stephen D. Marks, Fotios Papachristou, Valda Stanevicha, Richard Saffrey, Elizabeth Ralph, Johannes Peter Haas, Mary Slatter, Maria Tsinti, Mehmet Alikasifoglu, Mónica Martínez Gallo, Rayfel Schneider, Rosa Maria Rodrigues Pereira, Maria F. D. A. Giacomin, Alfésio Luís Ferreira Braga, Giulia Camilla Varnier, James McElnay, Jessica Foster, Ingrida Rumba-Rozenfelde, Francesca Minoia, Laurence Goffin, Roger C. Allen, Zehra S. Arıcı, Mette Nørgaard, Alberto Martini, Hofer Michaël, Andreas Eikelberg, Junko Yasumura, Maria José Santos, Tom Wolfs, Ada B. Sinoplu, Natalia Balera Ferreira Pinto, Michael Lang, Umberto Corpora, Hidenobu Kaneyasu, Fiorenzo Gaita, Olga Lomakina, Dimitrina Mihaylova, Gian Luca Erre, Fugen Cullu-Cokugras, Mesut Topdemir, Sriram Krishnaswami, Irina Nikishina, Noortje Groot, S. Pastore, Joke Dehoorne, Paula Estanqueiro, Shafe Fahoum, Francisca Aguiar, Mabel Ladino, Nico M Wulffraat, Jana Franova, Helena Erlandsson-Harris, Denise Pires Marafon, Adrian Liston, Edward H. Schuchman, Jaime C. Branco, Maria Teresa R. Terreri, Radoslava Saraeva, Ulrika Järpemo Nykvist, Maria Cristina Maggio, Kazuko Yamazaki, Lídia Teixeira, Hanquinet Sylviane, Ricardo Yepez, Susan Maillard, Tommy Gerschman, G. Horneff, Anne-Louise Ponsonby, Meredith Riebschleger, Alessandra Alongi, José Melo-Gomes, Iris Haug, Maria De Iorio, Ekaterina Alekseeva, Jan-Inge Henter, Elisa Pisaneschi, H. Kupper, Martina Niewerth, Berta López Montesinos, Shunji Hasegawa, Zahra Hadipour, R. M. Kuester, Silvia Maestroni, Pilar Guarnizo, Antonio Brucato, Tamaki Nakamura, Gustavo Antonio Moreira, Chaim Putterman, A. Hospach, Joost Frenkel, Svetlana O Salugina, A. Ravelli, Pavla Dolezalova, Gunnar L. Olsson, Eva González-Roca, Ellen Dalen Arnstad, Mohammad Alhemairi, Tina Hinnershitz, P. Quartier, Yildirim Karsioglu, Davinder Singh Grewal, Sergio Davì, Gökçen D. Tuğcu, Tomo Nozawa, Emily Robinson, M. C. Maggio, Maria Ballabio, Eleonora Bellucci, Alexei A. Grom, Rosa M. Pereira, Federica Vanoni, Shumpei Yokota, Justine A. Ellis, Helen Bristow, Mohammad-Hassan Moradinejad, Ricardo Russo, Harun Evrengül, Mario Abinun, Laura Carenini, Francesca Santarelli, C. Wallace, Maria Beatriz Fonseca, Timothy Beukelman, Saša Sršen, Véronique Hentgen, Sezgin Sahin, Silvia Zaffarano, Salvatore Albani, Valentin Brodszky, Clovis A. Silva, Graciela Espada, Jana Pachlopnik Schmid, Margaux Gerbaux, Stefano Stagi, Valentina Leone, Brian Leroux, Isabelle Koné-Paut, Gabriella Giancane, Soley Omarsdottir, Benedetta Schiappapietra, Alessandra Carobbio, Ricardo Menendez-Castro, Yoshifumi Kawano, Ozge Erdemli, Monia Lorini, Arjan Boltjes, Ellen Nordal, Carol A. Wallace, Mustafa Çakan, Reni Tzveova, Stefano Lanni, Salah Shokry, Kirsty McLellan, Qiong Wu, Nilay Arman, Adelina Tsakova, Michael W. Beresford, A. Consolaro, Francesca Bovis, Margarita Ganeva, Christoph Kessel, A. Martini, Taichi Kanetaka, Andre Schultz, Flora McErlane, Ronnie Wang, Mojca Zajc Avramovič, Thaschawee Arkachaisri, Boris Huegle, Funda Öztunç, Jane E Munro, Yanick J. Crow, Hiroyuki Wakiguchi, Rita Fonseca, Kim E. Nichols, Mia Glerup, Nils Venhoff, R. Filonovich, Erika Van Nieuwenhove, Nadia Rafiq, Elena Kamenets, Yasuo Nakagishi, Giampietro Farronato, Consuelo Modesto Caballero, Tulay Erkan, Jan Bonhoeffer, Jack Bukowski, Myrthes Toledo Barros, Gladys C. C. Esteves, Mirta Lamot, Rosa Alcobendas, Cláudia Moura, Florencia María Barbé-Tuana, Joo Guan Yeo, Mark Friswell, Yuko Sugita, Ari Shapiro, Nagla Abdelrahman, Phu-Quoc Lê, Kevin Murray, Susanne M Benseler, Anna Monica Bianco, J. Kalabic, Ana Catarina Duarte, Ivan Caiello, Joyce Davidson, Maria Isabel Gonzalez Fernandez, Larisa Zajtseva, Ebun Omoyinmi, Jaime de Inocencio, Dragana Lazarevic, Ritambhra Nada, Claudia Saad-Magalhães C, G. Conti, Andrew Gennery, Caroline Jones, Christophe Lelubre, Brian Rusted, Geneviève Lapeyre, Giulia Zani, Alina Boteanu, Maria T. Terreri, Nataliya Panko, Julia Albrecht, Federica Mongini, Lucio Giordano, Daniela Kaiser, Robert Nelson, Hans-Iko Huppertz, Gonca Keskindemirci, Karla Ištuk, Raffaele Strippoli, Dorota Rowczenio, Emma MacDermott, Roberta Caorsi, Emiliano Marasco, Sandra Sousa, Fatoş Yalçınkaya, Jaanika Ilisson, Yuki Kimura, Marco Turco, Nami Okamoto, Parveen Bhatti, Ekaterina M. Kuchinskaya, Stefano Volpi, Min Wang, Jeffrey M. Craig, M. Bijl, Giusi Prencipe, Fatemeh Tahghighi, W. van Dijk, Christiaan Scott, Masaki Shimizu, Alexey Maletin, Braydon Meyer, Joost F Swart, Sylvia Costa Lima Farhat, Anna Taparkou, R. Fritsch-Stork, Paolo Cressoni, Reiji Hirano, I. Chyzheuskaya, Stefania Simou, Kseniya Isayeva, Mariluz Gámir Gámir, Paivi Miettunen, Francesca Ricci, Ruta Šantere, George Lazaros, Madeleine Rooney, Stefan Stefanov, Huseyin Ozkan, Céline La, Boris Hügle, Vita Dolžan, P. Barone, R. Gallizzi, Aline L. de Oliveira, Silvia Federici, Lauren J. Lahey, Kimme L. Hyrich, Claudia Saad-Magalhães, Selçuk Yüksel, Valda Stanevica, Silvia De Pauli, Seid-Reza Raeeskarami, Calin Lazar, Sema Akman, Laurence Chatel, Kirsten Minden, Ismaiel A. Tekko, Philipp Henneke, E. Cortis, Elena Košková, Gil Amarilyo, Ana M. Marín Sánchez, Antonella Insalaco, Z. Birsin Ozcakar, Melissa Mariti Fraga, Lena Klevenvall, Luis Lira, Phoi-Ngoc Duong, Tatiana Bzarova, Neus Quilis, Wilco de Jager, Gary Sterba, Rina Denisova, Miroslav Harjacek, Eve M D Smith, N Ruperto, Gemma Lepri, Evgeniya Chistyakova, Rachel Kaufmann, Liliana Lourenço Jorge, Violeta Panaviene, Helena Canhão, Riccardo Belli, Grigoris Pardalos, Larisa I. Zajtseva, Nicolino Ruperto, Ezgi Batu, Paola Montesano, Alexander Solyom, Nicola Smith, Ales Janda, Sagar Bhattad, Liora Harel, Philip N. Hawkins, Gozde Yucel, François Willermain, Paolo Picco, Alessandro Rimini, Gordana Susic, Esi M. Morgan, Jessica Beckmann, Arina Lazareva, Agustin Remesal, Özge Altuğ Gücenmez, Troels Herlin, Andreas Groll, T. Yuraga, Ekaterina Zaharova, Adriana E. M. Sallum, Zeynep Birsin Özçakar, D. Milojevic, Can Kosukcu, Isabella Ceccherini, Sandrine Lacassagne, Tania M. Castro, R. Consolini, Klaus Müller, Dogan Simsek, Frank Rühle, Katia Kozu, Femke van Wijk, Yasin Sahin, Jonathan S. Hausmann, Gokalp Basbozkurt, M. Cattalini, Mª José Santos, Norman T. Ilowite, Adriana M. E. Sallum, Simona Rednic, Sirisucha Soponkanaporn, Giancarla Di Landro, Semanur Özdel, Timothy R. Radstake, Anastasia Wiener, Betül Sözeri, Estefania Quesada-Masachs, E. Zholobova, Joshua Newson, Ozgur Kasapcopur, Davide Montin, Terence Flood, Amir Mendelson, Manuela Pardeo, Flávia Heloísa dos Santos, Jamie Eaton, Vignesh Pandiarajan, Lyudmila Belyaeva, Edson Amaro Junior, Claudio Arnaldo Len, Tamás Constantin, Livia de Freitas Keppeke, Cristina Ferrari, Margarita Soloshenko, C. Rabinovich, David Popp, Jeremy Sokolove, Jaymi Taiani, Chiara Passarelli, de Min Cristina, José Costa, Stefanie Herresthal, Thomas Giner, Laure Caspers, Dilek Konukbay, Ulrich Salzer, Jorre S. Mertens, Marijan Frković, Yosef Uziel, Sabrina Chiesa, Luisa Bracci-Laudiero, Anders Fasth, Raul A. Chavez Valencia, Jordan T. Jones, Francesca Lancini, Alessandra Ferrari, Dana Nemcova, Mark Difrancesco, Ricardo Figueira, John Mitchell, Zohreh Nademi, E. Fedorov, Thomas Vogl, Carine Wouters, Mónica Eusébio, Hannah Leahey, Alessandra Pontillo, Marco Gattorno, Mandica Vidović, Lucas L. van den Hoogen, Mikhail Kostik, Giovanni Corsello, Gian Marco Moneta, Richard Mouy, Mariana Rodrigues, Veronica Medeghini, Gökçe Gür, Lucas Kich Grun, Stephan Ehl, Edi Paleka Bosak, Walter Ferlin, Hanna Lythgoe, Tsuyoshi Yamatou, Navdha R. Ramchurn, Carolina Furtado, Estefania Barral, Cecilia Lazea, Nikolay Tzaribachev, Vahid Ziaee, Fatemeh Hadipour, Alberto Sifuentes Giraldo, Kimberly Gilmour, Marite Rygg, Anna Valenti, María M Katsicas, Raju Khubchandani, Despoina Maritsi, Alessandra Tesser, R. M. Laxer, Clotilde Alizzi, Francisco Rivas-Larrauri, Aysen Tezcaner, Anne Dennos, Vasiliki Tzimouli, Vibeke Strand, Banu Acar, Fabio Candotti, Kseniia V. Danilko, Joachim Schultze, María Luz Gámir Gámir, Alessia Omenetti, Berit Flatø, Ruth Eraso, Bernard Lauwerys, Angela Pistorio, Andressa G. F. Alves, Gerd Ganser, Sara Signa, Ana Lopes, Emese Kiss, Charlene Foley, Sylvia Kamphuis, Maja Di Rocco, Kenan Barut, Ilaria Parissenti, Aida Koka, Nicholas Ng, Francis Corazza, Vinícius L. Braga, Laura E. Schanberg, Karin Beutel, Camila Hirotsu, Jonathan D Akikusa, Mihaela Sparchez, Karoline Ehlert, Jordi Anton, Adriana M. Sallum, Maria Cristina Castiglione, Surjit Singh, Julie Jones, Katya Temelkova, Tania S. Amin, Jasmin B Kuemmerle-Deschner, Samantha Bell, Sakda A.-O. Vallipakorn, Manuel Salgado, Filipa Ramos, Balahan Makay, Nadezhda Tsurikova, Gianmaria Viglizzo, Rosalba Ferraro, Sandra Hansmann, Nilgün Çakar, Ismail Dursun, Maria Stavrakidou, T. Bzarova, Sally Pino, Dhouib Amira, Salla Kangas, Antonella Meini, Dirk Foell, Dolunay Gürses, Dace Bērziņa, A. Speziale, Juan I. Arostegui Gorospe, Kelly L. Mieszkalski, Dawn M. Wahezi, S. Davì, Radoslav Srp, Daniel J. Kingsbury, Alexei A Grom, Falcini Fernanda, Peng Yin, Claire T. Deakin, Eva Hlavackova, Pavla Doležalová, Maria Mercedes Picarelli, Ezgi D. Batu, Alessandra Tricarico, Soamarat Vilaiyuk, Ivan Costa-Filho, A. Civino, Lukas Hackl, Pilar Gomez, Michael Hofer, M Manuela Costa, Zbigniew Zuber, Elena Ligostaeva, Carlos D. Rose, Jozef Hoza, Pranoot Tanpaiboon, Bonnie Vlahos, Sandra Garrote Corral, Martina Finetti, Giedre Grigelioniene, Susanne M. Benseler, X Wei, Pieter Van Dijkhuizen, Lee Nelson, Elettra Santori, David Martino, Anju Gupta, Nuray Aktay Ayaz, Noa Rabinowicz, Susan Shenoi, Rachel Chiaroni-Clarke, Claudia Bracaglia, Ruhan Düşünsel, M. Hofer, Rolando Cimaz, Juan I. Aróstegui, Ana Filipa Mourão, Ivonne Arroyo, Laura Damian, Marco F. C. D. Silva, D. J. Lovell, Marta Torcoletti, Clara Malagón, Luisa Klotz, Krisztina Sevcic, Douglas Veale, Belen Serrano Benavente, N. Groot, Polyxeni Pratsidou, Nicole Johnson, Karen Wynne, SR Rodionovskaya, Melania Saifridova, Kaara Tiewsoh, Ryan F. Donnelly, Fernanda Falcini, Valérie Badot, M. G. Alpigiani, L. Breda, Farida Abduragimova, Veronika Gjertsen Rypdal, Sophie Hambleton, E. Chalom, Anna Horne, Antonio Novelli, O. Kostareva, Panagiotis Tziavas, Yara Barrense-Dias, Cecilia Bava, Sarah Ringold, William H. Robinson, Sirirat Charuvanij, D. Kingsbury, Shuichi Ito, Luiz A. A. Pereira, Marcus Herbert Jones, S. I. Valieva, Flavio Sztajnbok, Florence Guilhot, Cristina de Min, Adriana Diaz-Maldonado, Simone A. Lotufo, Beril Talim, M. Heinrich, Paul Newland, and Laura Pagani

Subjects
030203 arthritis & rheumatology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Rheumatology, business.industry, 030220 oncology & carcinogenesis, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, business, Paediatric rheumatology
Published
2017

18. Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

Author

Roshanak Vameghi, Eiman Bagherizadeh, Mostafa Najafi, Farkhondeh Behjati, Ideh Bahman, Ali Reza Mohammadi Arya, Firoozeh Sajedi, Fatemeh Hadipour, Peyman Jamali, Kimia Kahrizi, Yousef Shafeghati, Saghar Ghasemi Firouzabadi, Hossein Darvish, Behruz Ebrahimizade Ghasemlou, Roxana Kariminejad, Zahra Hadipour, Fatemeh Behnia, Hossein Najmabadi, and Hossein Karimi

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, education.field_of_study, business.industry, Population, Prevalence, Chromosome, General Medicine, Subtelomere, Gastroenterology, Kowsar, Mental Retardation, Internal medicine, Gene duplication, Hypersomnolence Idiopathic, medicine, Multiplex ligation-dependent probe amplification, Abnormality, business, education, Ligation, Research Article
Abstract

Background: Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age. Objectives: The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran. Materials and Methods: A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique. Results: Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients. Conclusions: So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.

Published
2013

19. C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I

Author

Ahmad, Salamian, Parisa, Mohamadynejad, Kamran, Ghaedi, Alireza Shoaraye, Nejati, Yousef, Shafeghati, Mehdi Borhani, Ahnak, Marzieh, Nematollahi, Khadijeh, Karbalaie, Fatemeh, Hadipour, Hossein, Baharvand, and Mohammad Hossein, Nasr-Esfahani

Subjects
Male, Base Sequence, Chondrodysplasia Punctata, Rhizomelic, DNA Mutational Analysis, Homozygote, Molecular Sequence Data, Infant, Receptors, Cytoplasmic and Nuclear, Acetyl-CoA C-Acyltransferase, Pedigree, Amino Acid Substitution, Child, Preschool, Mutation, Humans, Female, Mutant Proteins, Peroxisomal Targeting Signal 2 Receptor
Abstract

Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 is a peroxisomal biogenesis disorder with a genetic abnormality in PEX7 gene. In the present study, mutational analysis was performed on two Iranian RCDP patients with distinct clinical phonotype. Mutation detection was carried out by sequencing of RT-PCR product consisting the whole length of PEX7 cDNA. Sequence data revealed the same missense homozygous mutation of G to A at nucleotide 257 in exon3 of PEX7 coding sequence in both patients. Moreover, genomic analysis of the PEX7 gene confirmed the RT-PCR data. This mutation caused one amino acid residue substitution of Cys to Tyr at codon 86 located on WD1 repeat domain region of Pex7p, which severely affected the functionality of PEX7 protein. Back-transfection of vector encoding mutant Pex7p did not restore the normal peroxisomal function in RCDP patient's fibroblast cells dissimilar to the native type of PEX7.

Published
2013

20. Erratum: The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

Author

Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Ebtesam Abdalla, Kristin P Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Isabelle Touitou, Majid Fardaei, and Rima Slim

Subjects
0303 health sciences, 03 medical and health sciences, 030219 obstetrics & reproductive medicine, 0302 clinical medicine, Genetics, Genetics (clinical), 3. Good health, 030304 developmental biology
Published
2016

21. Phenotypical characterization of 13q deletion syndrome: Report of two cases

Author

Yousef Shafaghati, Fatemeh Hadipour, Farkhondeh Behjati, and Eiman Bagherizadeh

Subjects
Moderate to severe, Genetics, 13q deletion syndrome, Case Report, Biology, medicine.disease, mental retardation, Phenotype, medicine, multiple anomalies, Genetics (clinical), Chromosome 13
Abstract

Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.

Published
2014

22. Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

Author

Taghi Baghdadi, Peymaneh Sarkheil, Fatemeh Hadipour, Zahra Hadipour, Yousef Shafeghati, and Mehrdad Noruzinia

Subjects
medicine.medical_specialty, biology, Glucose transporter, Case Report, medicine.disease, Frameshift mutation, Iranian novel mutation, Exon, Hypophosphatemic Rickets, Fanconi-Bickel syndrome, Endocrinology, glucose transporter 2gene, Intestinal mucosa, Osteogenesis imperfecta, Internal medicine, Genetics, medicine, biology.protein, GLUT2, missed diagnosis of osteogenesis imperfecta, Proximal renal tubular acidosis, Genetics (clinical)
Abstract

Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a single gene disorder; the responsible gene belongs to the facilitative glucose transporters 2 (GLUT2) family gene or (SLC2A2) mapped to the q26.1-26.3 locus on chromosome 3, and encodes the GLUT protein 2. This protein is expressed in pancreatic ί-cells, hepatocytes, renal tubules, and intestinal mucosa. Several mutations in the GLUT2 gene have been reported in different ethnicities. Herein we report an Iranian girl with a missed diagnosis of osteogenesis imperfecta. She was referred with the history of frequent fractures, and severe motor delay and was suspected to osteogenesis imperfecta. Following the case we detected refractory rickets instead of OI, sever growth failure, proximal renal tubulopathy and RTA, and enlarged kidneys, progressive hepatomegaly, and GSD on liver biopsy. Glucose and galactose tolerance tests confirmed abnormal carbohydrate metabolism. Molecular analysis on GLUT2 gene revealed a homozygous novel mutation in exon 5; it was 15 nucleotide deletion and 7 nucleotide insertion and caused a frame shift mutation, produced a premature truncated protein (P.A229QFsX19). This mutation has not been reported before in the relevant literature.

Published
2013

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