Biallelic WARS1 variants identified as genetic cause of neurodevelopmental syndrome

WARS1 is one of many key enzymes required for protein synthesis. Genetic variants in WARS1 are rare, with extremely limited evidence implicating it in a clinically heterogeneous autosomal recessive disorder. A study led by PD Dr Barbara Vona, researcher at the Institute of Human Genetics and the Institute of Auditory Neuroscience at the University Medical Center Göttingen, identified two families with different homozygous variants in WARS1 that show varying severities of intellectual disability and developmental delay. The researchers also observed several variable clinical features including hearing impairment. In further studies in a knockout zebrafish model, they investigated the functional effects of WARS1 variants and found that one part of the gene may be especially important in the auditory system. While this study, published in Human Mutation, only scratches the surface of the biology and function of WARS1, it provided further genetic evidence to implicate it in an autosomal recessive neurodevelopmental syndrome.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK.
Hum Mutat. 2022 Jul 11. doi: 10.1002/humu.24435. Epub ahead of print.

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