Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

摘要: Hearing loss is more prevalent in the Saudi Arabian population than other populations; however, full range of genetic etiologies this unknown. We report findings from 33 hearing-loss probands tribal ancestry, with predominantly prelingual severe to profound hearing loss. Testing was performed over course 2012–2016, and involved initial GJB2 sequence GJB6-D13S1830 deletion screening, negative cases being reflexed a next-generation sequencing panel 70, 71, or 87 genes. A “positive” result reached 63% probands, two recurrent OTOF variants (p.Glu57* p.Arg1792His) accountable for third all cases. The next most common cause pathogenic MYO7A SLC26A4, each responsible three Interestingly, only one diagnosis had DFNB1-related cause, due homozygous deletion, no were detected. Our implicate as potential major contributor population, while highlighting low contribution GJB2, thus offering important considerations clinical testing strategies patients. Further screening patients needed characterize spectrum population.