Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Autor: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)

Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51
https://pubmed.ncbi.nlm.nih.gov/34172899

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Autor: Peter O. Bauer, Ahmet Okay Caglayan, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Valentina Stanley, Joseph G. Gleeson, Maryam Najafi, Abolfazl Rad, Reza Maroofian, Kiely N. James, Hülya Kayserili, Rose-Mary Boustany, Zeineb Bakey, Murat Gunel, Natalie S. Hauser, Gozde Yesil, Rebecca Miller, Afsaneh Sahebzamani, Miriam Schmidts, Kaman Wu, Umut Altunoglu

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 56, 5, pp. 332-339
Journal of Medical Genetics, 56, 332-339

Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5a13715fc2f5c3dc0a1bc5fdccecd4
https://hdl.handle.net/20.500.12645/10376