Novel variant in OTOG gene in consanguineous family with sensorineural hearing loss

The case report investigates sensorineural hearing loss (SNHL) in three siblings from a consanguineous Afghani family, with a particular focus on the novel variant in the OTOG gene, c.1644+5 G>C. The homozygous OTOG variant is consistently observed in all three siblings. This intronic+5 splice site variant is rare and predicted to have a deleterious effect, suggesting a potential role in SNHL pathogenesis. The study highlights the significance of OTOG variants in autosomal recessive non-syndromic hearing loss and the challenges in variant interpretation. While further research is needed to fully elucidate the functional consequences of OTOG variants, this finding emphasises the importance of genetic testing in consanguineous families and under-represented populations and underscores the heterogeneous nature of SNHL.