Article
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021
Lin Sheng-Jia, Vona Barbara, Barbalho Patricia G, Kaiyrzhanov Rauan, Maroofian Reza, Petree Cassidy, Severino Mariasavina, Stanley Valentina, Varshney Pratishtha, Bahena Paulina, Alzahrani Fatema, Alhashem Amal, Pagnamenta Alistair T, Aubertin Gudrun, Estrada-Veras Juvianee I, Hernández Héctor Adrián Díaz, Mazaheri Neda, Oza Andrea, Thies Jenny, Renaud Deborah L, Dugad Sanmati, McEvoy Jennifer, Sultan Tipu, Pais Lynn S, Tabarki Brahim, Villalobos-Ramirez Daniel, Rad Aboulfazl, Galehdari Hamid, Ashrafzadeh Farah, Sahebzamani Afsaneh, Saeidi Kolsoum, Torti Erin, Elloumi Houda Z, Mora Sara, Palculict Timothy B, Yang Hui, Wren Jonathan D, Ben Fowler, Joshi Manali, Behra Martine, Burgess Shawn M, Nath Swapan K, Hanna Michael G, Kenna Margaret, Merritt J Lawrence, Houlden Henry, Karimiani Ehsan Ghayoor, Zaki Maha S, Haaf Thomas, Alkuraya Fowzan S, Gleeson Joseph G, Varshney Gaurav K
Abstract excerpt
PURPOSE: 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 generate a disease model to understand its function in vivo. METHODS: Through international collaboration, we identified 22 affected individuals from 16...
Read the complete abstract on PubMed