Article
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Human mutation - 1 Oct 2022
Lin Sheng-Jia, Vona Barbara, Porter Hillary M, Izadi Mahmoud, Huang Kevin, Lacassie Yves, Rosenfeld Jill A, Khan Saadullah, Petree Cassidy, Ali Tayyiba A, Muhammad Nazif, Khan Sher A, Muhammad Noor, Liu Pengfei, Haymon Marie-Louise, Rüschendorf Franz, Kong Il-Keun, Schnapp Linda, Shur Natasha, Chorich Lynn, Layman Lawrence, Haaf Thomas, Pourkarimi Ehsan, Kim Hyung-Goo, Varshney Gaurav K
Abstract excerpt
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominant or recessive inheritance patterns in many instances. Variants in tryptophanyl-tRNA synthetase 1 (WARS1) cause autosomal dominantly inherited distal hereditary motor...
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