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37 results on '"Steichen-Gersdorf, Elisabeth"'

2. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
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3. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Author

Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz-Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, and Thauvin-Robinet, Christel

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Ciliary Motility Disorders, Encephalocele, Face, Female, Heterozygote, Humans, Male, Mutation, Orofaciodigital Syndromes, Polycystic Kidney Diseases, Proteins, Retinitis Pigmentosa, ciliopathies, oral-facial-digital syndromes, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.

Published
2017

5. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J., Cousin, Margot A., Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R., Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Baena, Neus, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W., Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z., Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins II, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, and Callewaert, Bert

Published
2019
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8. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Author

Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie, ARD - Amsterdam Reproduction and Development, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Croissance cellulaire, réparation et régénération tissulaires (CRRET), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), PolyGene AG [Rümlang, Switzerland], Department of Pediatric Genetics [Istanbul, Turkey] (Cerrahpasa Medicine School), Istanbul University, Paediatric Genetic Department [Antalya, Turkey], Akdeniz University, Innsbruck Medical University [Austria] (IMU), University Medical Center Groningen [Groningen] (UMCG), University Medical Center [Utrecht], Division of Paediatric Plastic Surgery [Utrecht, The Netherlands], Wilhelmina Children´s Hopsital [Utrecht, The Netherlands], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Radboud University Medical Center [Nijmegen], Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Next Generation Genetic Clinic [Mashhad, Iran], Razavi Cancer Research Center [Mashhad, Iran] (Razavi Hospital), Imam Reza International University [Mashhad, Iran], CIC Hôpital Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), This work was supported by the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement number 602300 (SYBIL) and the Fondation pour la Recherche Médicale (FRM) funding (DEQ20120323703)., European Project: 602300,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,SYBIL(2013), Gestionnaire, Hal Sorbonne Université, Systems biology for the functional validation of genetic determinants of skeletal diseases - SYBIL - - EC:FP7:HEALTH2013-10-01 - 2018-09-30 - 602300 - VALID, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Julius-Maximilians-Universität Würzburg (JMU), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Wilhelmina Children’s Hospital, and École Pratique des Hautes Études (EPHE)

Subjects
Electrophoresis, Chemistry(all), Amelogenesis Imperfecta, DISORDERS, PROTEINS, Science, GROWTH-PLATE, [SDV]Life Sciences [q-bio], Organic Anion Transporters, Sodium-Dependent, HEPARAN-SULFATE PROTEOGLYCANS, PHENOTYPES, Physics and Astronomy(all), Osteochondrodysplasias, Article, CALCIUM, Mice, Chlorocebus aethiops, Animals, Humans, Exome, Child, lcsh:Science, Glycoproteins, GLYCOSAMINOGLYCANS, Mice, Knockout, Bone Diseases, Developmental, Symporters, Biochemistry, Genetics and Molecular Biology(all), Body Weight, CHONDROITIN, Infant, GENE, [SDV] Life Sciences [q-bio], Disease Models, Animal, HEK293 Cells, Child, Preschool, COS Cells, Mutation, lcsh:Q, REGULATOR
Abstract

Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. SLC10A7 encodes a 10-transmembrane-domain transporter located at the plasma membrane. Functional studies in vitro demonstrate that SLC10A7 mutations reduce SLC10A7 protein expression. We generate a Slc10a7−/− mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype. Furthermore, we identify decreased heparan sulfate levels in Slc10a7−/− mouse cartilage and patient fibroblasts. Finally, we find an abnormal N-glycoprotein electrophoretic profile in patient blood samples. Together, our findings support the involvement of SLC10A7 in glycosaminoglycan synthesis and specifically in skeletal development., The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG synthesis.

Published
2018

9. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

Author

Gong, Yaoquin, Slee, Roger B., Fukai, Naomi, Rawadi, Georges, Roman-Roman, Sergio, Reginato, Anthony M., Wang, Hongwei, Cundy, Tim, Glorieux, Frencis H., Lev, Dorit, Zucharin, Margaret, Oexle, Konrad, Marcelino, Jose, Suwairi, Wafaa, Heeger, Shauna, Sabatakos, George, Apte, Suneel, Adkins, William N., Allgrove, Aeslan-Kirshner, Mine, Batch, Jennifer A., Beighton, Peter, Black, Graeme C. M., Boles, Richard G., Boon, Laurence M., Borone, Carla, Brunner, Han G., Carle, Georgas F., Dallapiccola, Bruno, Paepe, Anne de, Floege, Barbara, Halfhide, Melissa Lees, Hall, Bryan, Hennekam, Raoul C., Hirose, Tatsou, Jans, Ab, Juppner, Harald, Kim, Chong Ae, Keppler-Noreuil, Kim, Kohlschuetter, Alfried, LaCombe, Didier, Lambert, MArie, Lemyre, Emmanuelle, Letteboer, Tom, Peltonen, Leena, Ramesar, Rajkumar S., Romanengo, Marta, Somer, Hannu, Steichen-Gersdorf, Elisabeth, Steinman, beat, Sullivan, Beth, Superti-Firga, Andrea, Swoboda, Walter, Boogaard, MArie-Jose van der, Hul, Wim van, Vikkula, Miika, Votruba, Marcela, Zabel, Bernhard, Garcia, Teresa, Baron, Roland, Olsen, Bjorn R., and Warman, Matthew L.

Subjects
Cell research -- Analysis, Proteins -- Physiological aspects, Lipoproteins -- Physiological aspects, Bones -- Growth, Biological sciences
Abstract

Research has been conducted on the low peak mass that presents significant risk factor for osteoporosis. The effect of the LRP5 encoding the low-density lipoprotein receptor-related protein 5 on the bone mass accrual during growth has been investigated and the results are reported.

Published
2001

12. Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

Author

Colman, Marlies, Van Damme, Tim, Steichen - Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, and Malfait, Fransiska

Subjects
glycosaminoglycans, B3GAT3, phenotype, genotype, Medicine and Health Sciences, Biology and Life Sciences, GAG Linkeropathies, connective tissue
Published
2019

15. Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, primary, Albuisson, Juliette, additional, Boel, Annekatrien, additional, Al-Essa, Mazen, additional, Al-Manea, Waheed, additional, Bonnet, Damien, additional, Bostan, Ozlem, additional, Boute, Odile, additional, Busa, Tiffany, additional, Canham, Nathalie, additional, Cil, Ergun, additional, Coucke, Paul J., additional, Cousin, Margot A., additional, Dasouki, Majed, additional, De Backer, Julie, additional, De Paepe, Anne, additional, De Schepper, Sofie, additional, De Silva, Deepthi, additional, Devriendt, Koenraad, additional, De Wandele, Inge, additional, Deyle, David R., additional, Dietz, Harry, additional, Dupuis-Girod, Sophie, additional, Fontenot, Eudice, additional, Fischer-Zirnsak, Björn, additional, Gezdirici, Alper, additional, Ghoumid, Jamal, additional, Giuliano, Fabienne, additional, Diéz, Neus Baena, additional, Haider, Mohammed Z., additional, Hardin, Joshua S., additional, Jeunemaitre, Xavier, additional, Klee, Eric W., additional, Kornak, Uwe, additional, Landecho, Manuel F., additional, Legrand, Anne, additional, Loeys, Bart, additional, Lyonnet, Stanislas, additional, Michael, Helen, additional, Moceri, Pamela, additional, Mohammed, Shehla, additional, Muiño-Mosquera, Laura, additional, Nampoothiri, Sheela, additional, Pichler, Karin, additional, Prescott, Katrina, additional, Rajeb, Anna, additional, Ramos-Arroyo, Maria, additional, Rossi, Massimiliano, additional, Salih, Mustafa, additional, Seidahmed, Mohammed Z., additional, Schaefer, Elise, additional, Steichen-Gersdorf, Elisabeth, additional, Temel, Sehime, additional, Uysal, Fahrettin, additional, Vanhomwegen, Marine, additional, Van Laer, Lut, additional, Van Maldergem, Lionel, additional, Warner, David, additional, Willaert, Andy, additional, Collins, Tom R., additional, Taylor, Andrea, additional, Davis, Elaine C., additional, Zarate, Yuri, additional, and Callewaert, Bert, additional

Published
2018
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16. 15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Author

Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R., Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J., Herranz-Pérez, Vicente, Lee, Jaclyn S., Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R., Wallingford, John B., Blacque, Oliver E., Nachury, Maxence V., Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, and Thauvin-Robinet, Christel

Subjects
Male, Heterozygote, Polycystic Kidney Diseases, Proteins, Orofaciodigital Syndromes, Article, Face, Mutation, Humans, Abnormalities, Multiple, Female, Retinitis Pigmentosa, Ciliary Motility Disorders, Encephalocele
Abstract

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterized by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFD subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 OFDS cases. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753, IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231, WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterizing three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the MKS module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these 3 main subtypes, a further classification could be based on the genotype.

Published
2017

17. KidsAP: Eine künstliche Bauchspeicheldrüse für Kleinkinder mit Typ-1-Diabetes.

Author

Fröhlich-Reiterer, Elke, Tauschmann, Martin, Rami-Merhar, Birgit, Mader, Julia K., Fritsch, Maria, Steichen-Gersdorf, Elisabeth, and Hofer, Sabine E.

Abstract

Copyright of Pädiatrie & Pädologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020
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18. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, primary, Albuisson, Juliette, additional, Boel, Annekatrien, additional, Al-Essa, Mazen, additional, Al-Manea, Waheed, additional, Bonnet, Damien, additional, Bostan, Ozlem, additional, Boute, Odile, additional, Busa, Tiffany, additional, Canham, Nathalie, additional, Cil, Ergun, additional, Coucke, Paul J., additional, Cousin, Margot A., additional, Dasouki, Majed, additional, De Backer, Julie, additional, De Paepe, Anne, additional, De Schepper, Sofie, additional, De Silva, Deepthi, additional, Devriendt, Koenraad, additional, De Wandele, Inge, additional, Deyle, David R., additional, Dietz, Harry, additional, Dupuis-Girod, Sophie, additional, Fontenot, Eudice, additional, Fischer-Zirnsak, Björn, additional, Gezdirici, Alper, additional, Ghoumid, Jamal, additional, Giuliano, Fabienne, additional, Baena, Neus, additional, Haider, Mohammed Z., additional, Hardin, Joshua S., additional, Jeunemaitre, Xavier, additional, Klee, Eric W., additional, Kornak, Uwe, additional, Landecho, Manuel F., additional, Legrand, Anne, additional, Loeys, Bart, additional, Lyonnet, Stanislas, additional, Michael, Helen, additional, Moceri, Pamela, additional, Mohammed, Shehla, additional, Muiño-Mosquera, Laura, additional, Nampoothiri, Sheela, additional, Pichler, Karin, additional, Prescott, Katrina, additional, Rajeb, Anna, additional, Ramos-Arroyo, Maria, additional, Rossi, Massimiliano, additional, Salih, Mustafa, additional, Seidahmed, Mohammed Z., additional, Schaefer, Elise, additional, Steichen-Gersdorf, Elisabeth, additional, Temel, Sehime, additional, Uysal, Fahrettin, additional, Vanhomwegen, Marine, additional, Van Laer, Lut, additional, Van Maldergem, Lionel, additional, Warner, David, additional, Willaert, Andy, additional, Collins II, Tom R., additional, Taylor, Andrea, additional, Davis, Elaine C., additional, Zarate, Yuri, additional, and Callewaert, Bert, additional

Published
2018
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21. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Author

Janecke, Andreas R., primary, Xu, Ruijuan, additional, Steichen-Gersdorf, Elisabeth, additional, Waldegger, Siegfried, additional, Entenmann, Andreas, additional, Giner, Thomas, additional, Krainer, Iris, additional, Huber, Lukas A, additional, Hess, Michael W, additional, Frishberg, Yaacov, additional, Barash, Hila, additional, Tzur, Shay, additional, Schreyer-Shafir, Nira, additional, Sukenik-Halevy, Rivka, additional, Zehavi, Tania, additional, Raas-Rothschild, Annick, additional, Mao, Cungui, additional, and Müller, Thomas, additional

Published
2017
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22. Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

Author

Baumann, Matthias, primary, Steichen-Gersdorf, Elisabeth, additional, Krabichler, Birgit, additional, Petersen, Britt-Sabina, additional, Weber, Ulrike, additional, Schmidt, Wolfgang M, additional, Zschocke, Johannes, additional, Müller, Thomas, additional, Bittner, Reginald E, additional, and Janecke, Andreas R, additional

Published
2016
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23. Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

Author

Pichler, Karin, primary, Karall, Daniela, additional, Kotzot, Dieter, additional, Steichen-Gersdorf, Elisabeth, additional, Rümmele-Waibel, Alexandra, additional, Mittaz-Crettol, Laureane, additional, Wanschitz, Julia, additional, Bonafé, Luisa, additional, Maurer, Kathrin, additional, Superti-Furga, Andrea, additional, and Scholl-Bürgi, Sabine, additional

Published
2016
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28. Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

Author

Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, and Janecke, Andreas R

Abstract

The exceptionally large SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes different nesprin-1 isoforms, which are differentially expressed in striated muscle and in cerebellar and cerebral neurons. Nesprin-1 isoforms can function in cytoskeletal, nuclear, and vesicle anchoring. SYNE1 variants have been associated with a spectrum of neurological and neuromuscular disease. Homozygosity mapping combined with exome sequencing identified a disease-causing nonsense mutation in the ultimate exon of full-length SYNE1 transcript in an 8-year-old boy with distal arthrogryposis and muscular hypotonia. mRNA analysis showed that the mutant transcript is expressed at wild-type levels. The variant truncates nesprin-1 isoforms for the C-terminal KASH (Klarsicht-ANC-Syne homology) domain. This is the third family with recessive arthrogryposis caused by homozygous distal-truncating SYNE1 variants. There is a SYNE1 genotype–phenotype correlation emerging, with more proximal homozygous SYNE1 variants causing recessive cerebellar ataxia of variable onset (SCAR8; ARCA-1).

Published
2017
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30. Familial Site-specific Ovarian Cancer Is Linked to BRCA1 on 17q12-21

Author

Steichen-Gersdorf, Elisabeth, Gallion, Holly H., Ford, Deborah, Girodet, Catherine, Easton, Douglas F., DiCioccio, Richard A., Evans, Gareth, Ponder, Margaret A., Pye, Carole, Mazoyer, Sylvie, Noguchi, Tetsuro, Karengueven, Fabienne, Sobol, Hagay, Hardouin, A., Bignon, Yves-Jean, Piver, M. Steven, Smith, Simon A., and Ponder, Bruce A. J.

Subjects
Ovarian Neoplasms, Polymorphism, Genetic, endocrine system diseases, BRCA1 Protein, Genetic Linkage, Original Articles, Polymerase Chain Reaction, Neoplasm Proteins, Pedigree, Haplotypes, Humans, Female, Lod Score, skin and connective tissue diseases, Chromosomes, Human, Pair 17, Transcription Factors, Research Article
Abstract

In a study of nine families with “site-specific” ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age

Published
1994

32. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Author

Huber, Céline, primary, Delezoide, Anee-Lise, additional, Guimiot, Fabien, additional, Baumann, Clarisse, additional, Malan, Valérie, additional, Le Merrer, Martine, additional, Da Silva, Daniela Bezerra, additional, Bonneau, Dominique, additional, Chatelain, Pierre, additional, Chu, Carol, additional, Clark, Robin, additional, Cox, Helen, additional, Edery, Patrick, additional, Edouard, Thomas, additional, Fano, Virginia, additional, Gibson, Kate, additional, Gillessen-Kaesbach, Gabriele, additional, Giovannucci-Uzielli, Maria-Luisa, additional, Graul-Neumann, Luitgard Margarete, additional, van Hagen, Johana-Maria, additional, van Hest, Liselot, additional, Horovitz, Dafne, additional, Melki, Judith, additional, Partsch, Carl-Joachim, additional, Plauchu, Henry, additional, Rajab, Anna, additional, Rossi, Massimiliano, additional, Sillence, David, additional, Steichen-Gersdorf, Elisabeth, additional, Stewart, Helen, additional, Unger, Sheila, additional, Zenker, Martin, additional, Munnich, Arnold, additional, and Cormier-Daire, Valérie, additional

Published
2008
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34. Localisation of the breast‐ovarian cancer susceptibility gene (BRCAI) on 17q12–21 to an interval of ⩽IcM

Author

Smith, Simon A., primary, Dicioccio, Richard A., additional, Struewing, Jeffery P., additional, Easton, Douglas F., additional, Gallion, Holly H., additional, Albertsen, Hans, additional, Mazoyer, Sylvie, additional, Johansson, Bertil, additional, Steichen‐Gersdorf, Elisabeth, additional, Stratton, Mike, additional, Ford, Debbie, additional, Marshall, Gill, additional, White, Raymond L., additional, Piver, M. Steven, additional, and Ponder, Bruce A. J., additional

Published
1994
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35. Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Author

Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, and Witsch-Baumgartner, Martina

Subjects
*NULL mutation, *BIOSYNTHESIS, *AUTOSOMAL recessive polycystic kidney, *HUMAN abnormalities, *APOLIPOPROTEIN E, *ATP-binding cassette transporters, *DISEASE risk factors
Abstract

The Smith-Lemli-Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity. SLOS is caused by mutations in the Δ7sterol-reductase gene (DHCR7), which disrupt cholesterol biosynthesis. Phenotypic variability of the disease is already known to be associated with maternal apolipoprotein E (ApoE) genotype. The aim of this study was to detect additional modifiers of the SLOS phenotype. We examined the association of SLOS severity with variants in the genes for ApoC-III, lecithin-cholesterol acyltransferase, cholesteryl-ester transfer protein, ATP-binding cassette transporter A1 (ABCA1), and methylene tetrahydrofolate reductase. Our study group included 59 SLOS patients, their mothers, and 49 of their fathers. In addition, we investigated whether ApoE and ABCA1 genotypes are associated with the viability of severe SLOS cases (n=21) caused by two null mutations in the DHCR7 gene. Maternal ABCA1 genotypes show a highly significant correlation with clinical severity in SLOS patients (P=0.007). The rare maternal p.1587Lys allele in the ABCA1 gene was associated with milder phenotypes. ANOVA analysis demonstrated an association of maternal ABCA1 genotypes with severity scores (logarithmised) of SLOS patients of P=0.004. Maternal ABCA1 explains 15.4% (R2) of severity of SLOS patients. There was no association between maternal ApoE genotype and survival of the SLOS fetus carrying two null mutations. Regarding ABCA1 p.Arg1587Lys in mothers of latter SLOS cases, a significant deviation from Hardy-Weinberg equilibrium (HWE) was observed (P=0.005). ABCA1 is an additional genetic modifier in SLOS. Modifying placental cholesterol transfer pathways may be an approach for prenatal therapy of SLOS. [ABSTRACT FROM AUTHOR]

Published
2013
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36. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Author

Nadège Gigot, Anne Dieux, Yannis Duffourd, Bernard Aral, Lydie Burglen, Bérénice Doray, Olivier Rosnet, Alice Goldenberg, Martijn A. Huynen, Oliver E. Blacque, Brunella Franco, André Mégarbané, Diane Doummar, Ernie M.H.F. Bongers, Anne Fargeot-Espaliat, Clarisse Baumann, Judith St-Onge, Daniel Birnbaum, Sophie Saunier, Thibaut Eguether, Jean-François Deleuze, Estelle Lopez, Dominique Gaillard, Geneviève Pierquin, Shubha R. Phadke, Michel R. Leroux, Rachel H. Giles, Tania Attié-Bitach, Jaclyn S. Goldstein, Isabelle Desguerres, Elisabeth Steichen-Gersdorf, Brigitte Gilbert-Dussardier, Manuela Morleo, Jesús Argente, Jean Baptiste Rivière, Gregory J. Pazour, Christel Thauvin-Robinet, Julien Thevenon, Albert David, Maxence V. Nachury, Laurence Faivre, Philippe Loget, Véronique Chevrier, Bruno Reversade, Laurence Jego, Ange Line Bruel, Vicente Herranz-Pérez, Laurent Pasquier, Colin A. Johnson, John B. Wallingford, Valérie Cormier-Daire, Inusha Panigrahi, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut d'Astrophysique et de Géophysique [Liège], Université de Liège, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service: neuropédiatrie pathologie du développement, Université Pierre et Marie Curie - Paris 6 (UPMC), University Medical Center [Utrecht], University of Leeds, Radboud University [Nijmegen], Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Génétique Humaine, Université de Liège-CHU Liège, Service de Génétique, Hôpital de Hautepierre [Strasbourg], Génétique Médicale, Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Centre de Référence Anomalies du Développement Ouest, Laboratory of Human Embryology and Genetics, Institute of Medical Biology, Singapore, Department of Pediatrics, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Département de Génétique Médicale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Advanced Pediatric Center (PGIMER), Pediatry center, Pédiatrie Neonatalogie, Centre Hospitalier Général, Brive-la-Gaillarde, Brive-la-Gaillarde, France, Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Dauphine Recherches en Management - MLAB (DRM - MLAB), Dauphine Recherches en Management (DRM), Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Department of human genetics, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences-Institute for Genetic and Metabolic Disorders, Centre de génétique et Centre de référence maladies rares et anomalies du développement et syndromes malformatifs du Centre Est, Département de Génétique et Procréation UF-Hôpital Couple Enfant de Grenoble-CHU Grenoble, Hospital Universitario La Paz, Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], FHU TRANSLAD, Département de Génétique, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie intégrative de la molécule à l'organisme, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Neuropathies héréditaires et rein en développement, Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Lipides - Nutrition - Cancer (U866) ( LNC ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon ( ENSBANA ), Génétique des Anomalies du Développement ( GAD ), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne ( UB ), Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK, Radboud university [Nijmegen], Centre de Recherche en Cancérologie de Marseille ( CRCM ), Aix Marseille Université ( AMU ) -Institut Paoli-Calmettes-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Service de neuropédiatrie et pathologie du développement, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Service de neurométabolisme, Hôpital Necker-Enfants Malades, CHU, Paris, France, CHU de Poitiers-Centre de Référence Anomalies du Développement Ouest, Innsbruck Medical University [Austria] ( IMU ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Advanced Pediatric Center ( PGIMER ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Dauphine Recherches en Management - MLAB ( DRM - MLAB ), Dauphine Recherches en Management ( DRM ), Université Paris-Dauphine-Centre National de la Recherche Scientifique ( CNRS ) -Université Paris-Dauphine-Centre National de la Recherche Scientifique ( CNRS ), CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -INSTITUT CURIE, Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Saint-Joseph de Beyrouth ( USJ ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Innsbruck Medical University [Austria] (IMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Bruel, Ange Line, Franco, Brunella, Duffourd, Yanni, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean Françoi, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert Dussardier, Brigitte, Reversade, Bruno, Steichen Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesú, Aral, Bernard, Gigot, Nadège, St Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie Bitach, Tania, Rivière, Jean Baptiste, Faivre, Laurence, Thauvin Robinet, Christel, Bruel, Al, Franco, B, Duffourd, Y, Thevenon, J, Jego, L, Lopez, E, Deleuze, Jf, Doummar, D, Giles, Rh, Johnson, Ca, Huynen, Ma, Chevrier, V, Burglen, L, Morleo, M, Desguerres, I, Pierquin, G, Doray, B, Gilbert-Dussardier, B, Reversade, B, Steichen-Gersdorf, E, Baumann, C, Panigrahi, I, Fargeot-Espaliat, A, Dieux, A, David, A, Goldenberg, A, Bongers, E, Gaillard, D, Argente, J, Aral, B, Gigot, N, St-Onge, J, Birnbaum, D, Phadke, Sr, Cormier-Daire, V, Eguether, T, Pazour, Gj, Herranz-Perez, V, Goldstein, J, Pasquier, L, Loget, P, Saunier, S, Megarbane, A, Rosnet, O, Leroux, Mr, Wallingford, Jb, Blacque, Oe, Nachury, Mv, Attie-Bitach, T, Riviere, Jb, Faivre, L, and Thauvin-Robinet, C

Subjects
Male, 0301 basic medicine, Heterozygote, ciliopathie, Oral facial digital, [SDV]Life Sciences [q-bio], [ SDV.BBM.BM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Biology, Ciliopathies, Centriole elongation, 03 medical and health sciences, Intraflagellar transport, Genotype, Genetics, Polycystic kidney disease, medicine, Humans, Abnormalities, Multiple, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Functional studies, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene, oral-facial-digital syndromes, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Encephalocele, Polycystic Kidney Diseases, [ SDV ] Life Sciences [q-bio], ciliopathies, Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Orofaciodigital Syndromes, medicine.disease, 030104 developmental biology, Face, Mutation, Female, Retinitis Pigmentosa, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Ciliary Motility Disorders
Abstract

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in theOFD1gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3,TMEM107,INTU,KIAA0753andIFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42,TMEM138,TMEM231andWDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.

Published
2017

37. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Author

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, and Cormier-Daire V

Subjects
Child, Child, Preschool, Consanguinity, Family, Fetal Growth Retardation genetics, Fetus diagnostic imaging, Fetus pathology, Genes, Recessive, Humans, Male, Radiography, Syndrome, Abnormalities, Multiple genetics, Cullin Proteins genetics, Genetic Heterogeneity, Mutation
Abstract

The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.

Published
2009
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