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30 results on '"Faqeih, Eissa Ali"'

1. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Author

Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Simons, Annet, and Hoischen, Alexander

Published
2024
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2. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Author

Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, and Distelmaier, Felix

Published
2023
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3. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Author

Moreno Traspas, Ricardo, Teoh, Tze Shin, Wong, Pui-Mun, Maier, Michael, Chia, Crystal Y., Lay, Kenneth, Ali, Nur Ain, Larson, Austin, Al Mutairi, Fuad, Al-Sannaa, Nouriya Abbas, Faqeih, Eissa Ali, Alfadhel, Majid, Cheema, Huma Arshad, Dupont, Juliette, Bézieau, Stéphane, Isidor, Bertrand, Low, Dorrain Yanwen, Wang, Yulan, Tan, Grace, Lai, Poh San, Piloquet, Hugues, Joubert, Madeleine, Kayserili, Hulya, Kripps, Kimberly A., Nahas, Shareef A., Wartchow, Eric P., Warren, Mikako, Bhavani, Gandham SriLakshmi, Dasouki, Majed, Sandoval, Renata, Carvalho, Elisa, Ramos, Luiza, Porta, Gilda, Wu, Bin, Lashkari, Harsha Prasada, AlSaleem, Badr, BaAbbad, Raeda M., Abreu Ferrão, Anabela Natália, Karageorgou, Vasiliki, Ordonez-Herrera, Natalia, Khan, Suliman, Bauer, Peter, Cogne, Benjamin, Bertoli-Avella, Aida M., Vincent, Marie, Girisha, Katta Mohan, and Reversade, Bruno

Published
2022
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4. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Author

Ng, Bobby G, Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N, Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B, AlAsmari, Ali, Suchy, Sharon F, Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A, Kronn, David F, and Freeze, Hudson H

Subjects
Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Genetics, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Alleles, Alternative Splicing, Cells, Cultured, Child, Child, Preschool, Fatal Outcome, Female, Fibroblasts, Fucose, Fucosyltransferases, Glycosylation, Humans, Lectins, Male, Mutation, Polysaccharides, RNA, Messenger, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Fucosyltransferase 8 (FUT8) encodes a Golgi-localized α1,6 fucosyltransferase that is essential for transferring the monosaccharide fucose into N-linked glycoproteins, a process known as "core fucosylation." Here we describe three unrelated individuals, who presented with intrauterine growth retardation, severe developmental and growth delays with shortened limbs, neurological impairments, and respiratory complications. Each underwent whole-exome sequencing and was found to carry pathogenic variants in FUT8. The first individual (consanguineous family) was homozygous for c.715C>T (p.Arg239∗), while the second (non-consanguineous family) was compound heterozygous for c.1009C>G (p.Arg337Gly) and a splice site variant c.1259+5G>T. The third individual (consanguineous family) was homozygous for a c.943C>T (p.Arg315∗). Splicing analysis confirmed the c.1259+5G>T resulted in expression of an abnormal FUT8 transcript lacking exon 9. Functional studies using primary fibroblasts from two affected individuals revealed a complete lack of FUT8 protein expression that ultimately resulted in substantial deficiencies in total core fucosylated N-glycans. Furthermore, serum samples from all three individuals showed a complete loss of core fucosylation. Here, we show that loss of function mutations in FUT8 cause a congenital disorder of glycosylation (FUT8-CDG) characterized by defective core fucosylation that phenotypically parallels some aspects of the Fut8-/- knockout mouse. Importantly, identification of additional affected individuals can be easily achieved through analysis of core fucosylation of N-glycans.

Published
2018

5. Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity.

Author

Vogel, Georg‐Friedrich, Podpeskar, Alexandra, Rieder, Dietmar, Salzer, Helin, Garczarczyk‐Asim, Dorota, Wang, Li, Abuduxikuer, Kuerbanjiang, Wang, Jian‐She, Scharrer, Anke, Faqeih, Eissa Ali, Aseeri, Ali T., Vodopiutz, Julia, Heilos, Andreas, Pichler, Judith, Huber, Wolf‐Dietrich, Müller, Thomas, Knisely, A. S., and Janecke, Andreas R.

Subjects
HEPATIC fibrosis, LIVER failure, CHILD patients, LIVER transplantation, LIVER diseases, GAMMA-glutamyltransferase
Abstract

Exome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic KIF12 variants using the human GRCh38 reference sequence, as KIF12 remains incompletely annotated in the older reference sequence GRCh37. A review of these and of 21 reported patients with KIF12 variants found that presentation with elevated serum transaminase activity in the context of trivial respiratory infection, without clinical features of liver disease, was more common (n = 18) than manifest cholestatic disease progressing rapidly to liver transplantation (LT; n = 7). Onset of liver disease was at age <1 year in 15 patients; LT was more common in this group. Serum gamma‐glutamyl transpeptidase activity (GGT) was elevated in all patients, and total bilirubin was elevated in 15 patients. Liver fibrosis or cirrhosis was present in 14 of 18 patients who were biopsied. The 16 different pathogenic variants and 11 different KIF12 genotypes found were not correlated with age of onset or progression to LT. Identification of biallelic pathogenic KIF12 variants distinguishes KIF12‐related disease from other entities with elevated GGT. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Author

Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
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8. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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9. Genetic Insights from Consanguineous Cardiomyopathy Families

Author

Maurer, Constance, primary, Boleti, Olga, additional, Najarzadeh Torbati, Paria, additional, Norouzi, Farzaneh, additional, Fowler, Anna Nicole Rebekah, additional, Minaee, Shima, additional, Salih, Khalid Hama, additional, Taherpour, Mehdi, additional, Birjandi, Hassan, additional, Alizadeh, Behzad, additional, Salih, Aso Faeq, additional, Bijari, Moniba, additional, Houlden, Henry, additional, Pittman, Alan Michael, additional, Maroofian, Reza, additional, Almashham, Yahya H., additional, Karimiani, Ehsan Ghayoor, additional, Kaski, Juan Pablo, additional, Faqeih, Eissa Ali, additional, Vakilian, Farveh, additional, and Jamshidi, Yalda, additional

Published
2023
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10. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Author

Cali, Elisa, primary, Suri, Mohnish, additional, Scala, Marcello, additional, Ferla, Matteo P., additional, Alavi, Shahryar, additional, Faqeih, Eissa Ali, additional, Bijlsma, Emilia K., additional, Wigby, Kristen M., additional, Baralle, Diana, additional, Mehrjardi, Mohammad Y.V., additional, Schwab, Jennifer, additional, Platzer, Konrad, additional, Steindl, Katharina, additional, Hashem, Mais, additional, Jones, Marilyn, additional, Niyazov, Dmitriy M., additional, Jacober, Jennifer, additional, Littlejohn, Rebecca Okashah, additional, Weis, Denisa, additional, Zadeh, Neda, additional, Rodan, Lance, additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Dutra-Clarke, Marina, additional, Horvath, Gabriella, additional, Young, Dana, additional, Orenstein, Naama, additional, Bawazeer, Shahad, additional, Vulto-van Silfhout, Anneke T., additional, Herenger, Yvan, additional, Dehghani, Mohammadreza, additional, Seyedhassani, Seyed Mohammad, additional, Bahreini, Amir, additional, Nasab, Mahya E., additional, Ercan-Sencicek, A. Gulhan, additional, Firoozfar, Zahra, additional, Movahedinia, Mojtaba, additional, Efthymiou, Stephanie, additional, Striano, Pasquale, additional, Karimiani, Ehsan Ghayoor, additional, Salpietro, Vincenzo, additional, Taylor, Jenny C., additional, Redman, Melody, additional, Stegmann, Alexander P.A., additional, Laner, Andreas, additional, Abdel-Salam, Ghada, additional, Li, Megan, additional, Bengala, Mario, additional, Müller, Amelie Johanna, additional, Digilio, Maria C., additional, Rauch, Anita, additional, Gunel, Murat, additional, Titheradge, Hannah, additional, Schweitzer, Daniela N., additional, Kraus, Alison, additional, Valenzuela, Irene, additional, McLean, Scott D., additional, Phornphutkul, Chanika, additional, Salih, Mustafa, additional, Begtrup, Amber, additional, Schnur, Rhonda E., additional, Torti, Erin, additional, Haack, Tobias B., additional, Prada, Carlos E., additional, Alkuraya, Fowzan S., additional, Houlden, Henry, additional, and Maroofian, Reza, additional

Published
2023
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11. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Author

Marafi, Dana, primary, Kozar, Nina, additional, Duan, Ruizhi, additional, Bradley, Stephen, additional, Yokochi, Kenji, additional, Al Mutairi, Fuad, additional, Saadi, Nebal Waill, additional, Whalen, Sandra, additional, Brunet, Theresa, additional, Kotzaeridou, Urania, additional, Choukair, Daniela, additional, Keren, Boris, additional, Nava, Caroline, additional, Kato, Mitsuhiro, additional, Arai, Hiroshi, additional, Froukh, Tawfiq, additional, Faqeih, Eissa Ali, additional, AlAsmari, Ali M., additional, Saleh, Mohammed M., additional, Pinto e Vairo, Filippo, additional, Pichurin, Pavel N., additional, Klee, Eric W., additional, Schmitz, Christopher T., additional, Grochowski, Christopher M., additional, Mitani, Tadahiro, additional, Herman, Isabella, additional, Calame, Daniel G., additional, Fatih, Jawid M., additional, Du, Haowei, additional, Coban-Akdemir, Zeynep, additional, Pehlivan, Davut, additional, Jhangiani, Shalini N., additional, Gibbs, Richard A., additional, Miyatake, Satoko, additional, Matsumoto, Naomichi, additional, Wagstaff, Laura J., additional, Posey, Jennifer E., additional, Lupski, James R., additional, Meijer, Dies, additional, and Wagner, Matias, additional

Published
2022
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12. The clinical utility of rapid exome sequencing in a consanguineous population.

Author

Monies, Dorota, Goljan, Ewa, Rapid Exome Consortium, Binmanee, Abdulaziz Mohammed, Alashwal, Abdullah Ali Zafir, Alsonbul, Abdullah Mohammed, Alhussaini, Abdulrahman A., Abdallah, Alahmari Ali, Albenmousa, Ali Hussain, Almehaidib, Ali Ibrahim, Hassan, Ali Syed Akhtarul, Alharbi, Amal Salman Alseraihy, Alhabib, Amro, Podda, Antonello, Alsaleem, Badr, Al Saud, Bandar Bin Khalid, Bin Abbas, Bassam Saleh, Faqeih, Eissa Ali, Aljofan, Fahad Badei, and Alhazzani, Fahad Naser

Subjects
INTENSIVE care units, MOLECULAR diagnosis
Abstract

Background: The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is typically employed in specialized clinical settings wherein urgent molecular diagnosis is thought to influence acute management. Studies on the clinical utility of RES have been largely limited to outbred populations. Methods: Here, we describe our experience with rapid exome sequencing (RES) in a highly consanguineous population. Clinical settings included intensive care units, prenatal cases approaching the legal cutoff for termination, and urgent transplant decisions. Results: A positive molecular finding (a pathogenic or likely pathogenic variant that explains the phenotype) was observed in 80 of 189 cases (42%), while 15 (8%) and 94 (50%) received ambiguous (variant of uncertain significance (VUS)) and negative results, respectively. The consanguineous nature of the study population gave us an opportunity to observe highly unusual and severe phenotypic expressions of previously reported genes. Clinical utility was observed in nearly all (79/80) cases with positive molecular findings and included management decisions, prognostication, and reproductive counseling. Reproductive counseling is a particularly important utility in this population where the overwhelming majority (86%) of identified variants are autosomal recessive, which are more actionable in this regard than the de novo variants typically reported by RES elsewhere. Indeed, our cost-effectiveness analysis shows compelling cost savings in the study population. Conclusions: This work expands the diversity of environments in which RES has a demonstrable clinical utility. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Author

Imtiaz, Faiqa, primary, Al-Mubarak, Bashayer M., additional, Al-Mostafa, Abeer, additional, Al-Hamed, Mohamed, additional, Allam, Rabab, additional, Al-Hassnan, Zuhair, additional, Al-Owain, Mohammed, additional, Al-Zaidan, Hamad, additional, Rahbeeni, Zuhair, additional, Qari, Alya, additional, Faqeih, Eissa Ali, additional, Alasmari, Ali, additional, Al-Mutairi, Fuad, additional, Alfadhel, Majid, additional, Eyaid, Wafaa M., additional, Rashed, Mohamed S., additional, and Al-Sayed, Moeenaldeen, additional

Published
2014
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14. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Author

Olinger, Eric, primary, Alawi, Intisar Al, additional, Al Riyami, Mohammed S., additional, Salmi, Isa Al, additional, Molinari, Elisa, additional, Faqeih, Eissa Ali, additional, Al‐Hamed, Mohamed H., additional, Barroso‐Gil, Miguel, additional, Powell, Laura, additional, Al‐Hussaini, Abdulrahman A., additional, Rahim, Khawla A., additional, Almontashiri, Naif A. M., additional, Miles, Colin, additional, Shril, Shirlee, additional, Hildebrandt, Friedhelm, additional, Consortium, Genomics England Research, additional, Wilson, Ian J., additional, and Sayer, John A., additional

Published
2021
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15. Biallelic PRMT7pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Author

Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, and Maroofian, Reza

Abstract

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder.

Published
2023
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16. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease

Author

Grünert, Sarah C., primary, Foster, William, additional, Schumann, Anke, additional, Lund, Allan, additional, Pontes, Christina, additional, Roloff, Sylvia, additional, Weinhold, Natalie, additional, Yue, Wyatt W., additional, AlAsmari, Ali, additional, Obaid, Osama A., additional, Faqeih, Eissa Ali, additional, Stübbe, Lisa, additional, Yamamoto, Raina, additional, Gemperle-Britschgi, Corinne, additional, Walter, Melanie, additional, Spiekerkoetter, Ute, additional, Mackinnon, Sabrina, additional, and Sass, Jörn Oliver, additional

Published
2021
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20. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Author

Burns, David T, Donkervoort, Sandra, Müller, Juliane S, Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K, AlFaifi, Abdullah Y, Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C, Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S, Kang, Peter B, Griffin, Helen, Foley, A Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G, Munro, Benjamin [0000-0003-4506-7092], Horvath, Rita [0000-0002-9841-170X], and Apollo - University of Cambridge Repository

Subjects
Male, Exosomes, Article, cerebellar atrophy, Cerebellum, exosome, Animals, Humans, neurodegenerative diseases, Amino Acid Sequence, Muscle, Skeletal, Zebrafish, spinal muscular atrophy, RNA metabolism, Motor Neurons, Base Sequence, Exosome Multienzyme Ribonuclease Complex, Genetic Variation, Infant, RNA-Binding Proteins, Fibroblasts, Pedigree, Haplotypes, Spinal Cord, Child, Preschool, Gene Knockdown Techniques, Female, Atrophy
Abstract

The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in vitro in affected individuals' fibroblasts and skeletal muscle and in vivo in zebrafish. The clinical presentation was severe, early-onset, progressive SMA-like motor neuronopathy, cerebellar atrophy, and in one affected individual, congenital fractures of the long bones. Three affected individuals of different ethnicity carried the homozygous c.41T>C (p.Leu14Pro) variant, whereas one affected individual was compound heterozygous for c.41T>C (p.Leu14Pro) and c.481C>T (p.Arg161∗). We detected reduced EXOSC9 in fibroblasts and skeletal muscle and observed a reduction of the whole multi-subunit exosome complex on blue-native polyacrylamide gel electrophoresis. RNA sequencing of fibroblasts and skeletal muscle detected significant >2-fold changes in genes involved in neuronal development and cerebellar and motor neuron degeneration, demonstrating the widespread effect of the variants. Morpholino oligonucleotide knockdown and CRISPR/Cas9-mediated mutagenesis of exosc9 in zebrafish recapitulated aspects of the human phenotype, as they have in other zebrafish models of exosomal disease. Specifically, portions of the cerebellum and hindbrain were absent, and motor neurons failed to develop and migrate properly. In summary, we show that variants in EXOSC9 result in a neurological syndrome combining cerebellar atrophy and spinal motoneuronopathy, thus expanding the list of human exosomopathies.

Published
2019
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21. Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.

Author

Alsharhan, Hind, Ng, Bobby G., Daniel, Earnest James Paul, Friedman, Jennifer, Pivnick, Eniko K., Al‐Hashem, Amal, Faqeih, Eissa Ali, Liu, Pengfei, Engelhardt, Nicole M., Keller, Kierstin N., Chen, Jie, Mazzeo, Pamela A., Rosenfeld, Jill A., Bamshad, Michael J., Nickerson, Deborah A., Raymond, Kimiyo M., Freeze, Hudson H., He, Miao, Edmondson, Andrew C., and Lam, Christina

Abstract

Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3‐CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported individuals diagnosed with ALG3‐CDG based on molecular and biochemical testing with 11 novel variants in ALG3, bringing the total to 40 reported individuals. In addition to the typical multisystem disease seen in ALG3‐CDG, we expand the symptomatology of ALG3‐CDG to now include endocrine abnormalities, neural tube defects, mild aortic root dilatation, immunodeficiency, and renal anomalies. N‐glycan analyses of these individuals showed combined deficiencies of hybrid glycans and glycan extension beyond Man5GlcNAc2 consistent with their truncated lipid‐linked precursor oligosaccharides. This spectrum of N‐glycan changes is unique to ALG3‐CDG. These expanded features of ALG3‐CDG facilitate diagnosis and suggest that optimal management should include baseline endocrine, renal, cardiac, and immunological evaluation at the time of diagnosis and with ongoing monitoring. [ABSTRACT FROM AUTHOR]

Published
2021
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22. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Author

Ansar, Muhammad, primary, Chung, Hyung-lok, additional, Al-Otaibi, Ali, additional, Elagabani, Mohammad Nael, additional, Ravenscroft, Thomas A., additional, Paracha, Sohail A., additional, Scholz, Ralf, additional, Abdel Magid, Tayseer, additional, Sarwar, Muhammad T., additional, Shah, Sayyed Fahim, additional, Qaisar, Azhar Ali, additional, Makrythanasis, Periklis, additional, Marcogliese, Paul C., additional, Kamsteeg, Erik-Jan, additional, Falconnet, Emilie, additional, Ranza, Emmanuelle, additional, Santoni, Federico A., additional, Aldhalaan, Hesham, additional, Al-Asmari, Ali, additional, Faqeih, Eissa Ali, additional, Ahmed, Jawad, additional, Kornau, Hans-Christian, additional, Bellen, Hugo J., additional, and Antonarakis, Stylianos E., additional

Published
2019
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24. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Author

Burns, David T., primary, Donkervoort, Sandra, additional, Müller, Juliane S., additional, Knierim, Ellen, additional, Bharucha-Goebel, Diana, additional, Faqeih, Eissa Ali, additional, Bell, Stephanie K., additional, AlFaifi, Abdullah Y., additional, Monies, Dorota, additional, Millan, Francisca, additional, Retterer, Kyle, additional, Dyack, Sarah, additional, MacKay, Sara, additional, Morales-Gonzalez, Susanne, additional, Giunta, Michele, additional, Munro, Benjamin, additional, Hudson, Gavin, additional, Scavina, Mena, additional, Baker, Laura, additional, Massini, Tara C., additional, Lek, Monkol, additional, Hu, Ying, additional, Ezzo, Daniel, additional, AlKuraya, Fowzan S., additional, Kang, Peter B., additional, Griffin, Helen, additional, Foley, A. Reghan, additional, Schuelke, Markus, additional, Horvath, Rita, additional, and Bönnemann, Carsten G., additional

Published
2018
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26. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Author

Sass, Jörn Oliver, primary, Gemperle-Britschgi, Corinne, additional, Tarailo-Graovac, Maja, additional, Patel, Nisha, additional, Walter, Melanie, additional, Jordanova, Albena, additional, Alfadhel, Majid, additional, Barić, Ivo, additional, Çoker, Mahmut, additional, Damli-Huber, Aynur, additional, Faqeih, Eissa Ali, additional, García Segarra, Nuria, additional, Geraghty, Michael T., additional, Jåtun, Bjørn Magne, additional, Kalkan Uçar, Sema, additional, Kriewitz, Merten, additional, Rauchenzauner, Markus, additional, Bilić, Karmen, additional, Tournev, Ivailo, additional, Till, Claudia, additional, Sayson, Bryan, additional, Beumer, Daniel, additional, Ye, Cynthia Xin, additional, Zhang, Lin-Hua, additional, Vallance, Hilary, additional, Alkuraya, Fowzan S., additional, and van Karnebeek, Clara D.M., additional

Published
2016
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27. Biallelic variants in CRIPTcause a Rothmund-Thomson-like syndrome with increased cellular senescence

Author

Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, and Distelmaier, Felix

Abstract

Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4and ANAPC1are the 2 known disease genes associated with RTS in >70% of cases. We describe RTS-like features in 5 individuals with biallelic variants in CRIPT(OMIM 615789).

Published
2023
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28. Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Author

Huber, Céline, primary, Faqeih, Eissa Ali, additional, Bartholdi, Deborah, additional, Bole-Feysot, Christine, additional, Borochowitz, Zvi, additional, Cavalcanti, Denise P., additional, Frigo, Amandine, additional, Nitschke, Patrick, additional, Roume, Joelle, additional, Santos, Heloísa G., additional, Shalev, Stavit A., additional, Superti-Furga, Andrea, additional, Delezoide, Anne-Lise, additional, Le Merrer, Martine, additional, Munnich, Arnold, additional, and Cormier-Daire, Valérie, additional

Published
2013
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29. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Author

Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, and Henriet, Stefanie S.V.

Subjects
*NUCLEOTIDE sequencing, *PRIMARY immunodeficiency diseases, *GENETIC disorder diagnosis, *AUTOIMMUNE diseases, *GENETIC variation
Abstract

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review. The molecular diagnostic yield after standard exome analysis was 11.8 %. Through systematic reanalysis, we identified variants of interest in 5.2 % of undiagnosed patients, with 76.7 % being (candidate) disease-causing, providing a (candidate) diagnosis in 15.2 % of our cohort. We find a 1.7 percentage point increase in conclusive molecular diagnoses. We find a high degree of actionability in patients with a genetic diagnosis (76.4 %). Despite the modest absolute diagnostic gain, these data support the benefit of iterative exome reanalysis in IEI patients, conveying the notion that our current understanding of genes and variants involved in IEI is by far not saturated. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Author

Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, and Houlden H

Subjects
Animals, Humans, Drosophila melanogaster genetics, GTP Phosphohydrolases genetics, Phenotype, Drosophila Proteins genetics, GTP-Binding Proteins genetics, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders genetics
Abstract

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2024
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