A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures

Ann Otol Rhinol Laryngol. 2023 Nov;132(11):1493-1495. doi: 10.1177/00034894231161866. Epub 2023 Apr 3.


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 GRXCR1 gene. This mutation was confirmed in her affected mother and sibling by PCR and Quantitative Real-Time PCR.

Conclusion: We identified a novel GRXCR1 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.

Keywords: GRXCR1; congenital abnormalities; exome sequencing; hearing loss.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Adult
  • Connexin 26
  • Connexins / genetics
  • Deafness*
  • Exons / genetics
  • Female
  • Hearing Loss, Sensorineural*
  • Homozygote
  • Humans
  • Mutation
  • Pedigree
  • Sequence Deletion


  • Connexins
  • Connexin 26

Supplementary concepts

  • Nonsyndromic Deafness