A Novel Exon 2 Deletion Mutation in the Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures.

Background: About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heterogeneity.

Objectives: To report a case of congenital hearing loss with novel homozygous deletion in GRXCR1 gene.

Methods: Case reports and review of literatures.

Results: In this study, the proband was a 32-year-old woman seeking pre-marriage genetic counseling with non-syndromic congenital hearing loss. An owing negative test for GJB2 mutations, she underwent exome sequencing, unveiling a novel homozygous exon 2 deletion of the gene. This mutation was confirmed in her affected mother and sibling by PCR and Quantitative Real-Time PCR.

Conclusion: We identified a novel gene mutation related to congenital hearing loss in a family. Our study highlights the efficiency of exome sequencing in discovering gene mutations in cases of diseases with genetic heterogeneity.