A Truncating GPSM2 Mutation Causes Autosomal Recessive Nonsyndromic Hearing Loss: a Case Report

• DOI: 10.1007/s42399-021-00787-6
• Publication Date: 2021-02-09T02:13:32Z
• Authors: Pirooz Ebrahimi; Mohamad Moghadam; Melika Maydanchi; Shahin Jamshidabadi; Ahmad Ebrahimi; Ali Saber
• Keywords: 0303 health sciences; 03 medical and health sciences

Approximately 80% of prelingual deafness is caused by genetic mutations and follows an autosomal recessive inheritance pattern. Over 6000 variants in almost 110 genes have been identified in nonsyndromic hearing loss so far. In this study, we investigated the genetic cause of nonsyndromic hearing loss in an Iranian young woman using whole exome sequencing (WES) and performed segregation analysis. We detected a homozygous single base insertion (c.904_905insA, p.Ile302Asnfs) in exon eight of GPSM2 gene causing a change in the reading frame. This mutation was also confirmed in homozygous and heterozygous forms in the affected sibling and parents, respectively. Based on the segregation analysis we performed, individuals harboring c.904_905insA mutation in homozygous form are affected by nonsyndromic hearing loss.