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Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

Khushnooda Ramzan1, Nouf S Al-Numair1, Sarah Al-Ageel2

  • 1Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

Genes
|December 15, 2020
PubMed
Summary

Pathogenic variants in the CDH23 gene cause nonsyndromic hearing loss (NSHL) in Saudi Arabian patients. This study identifies novel CDH23 mutations, aiding in the diagnosis and genetic counseling for hearing impairment.

Keywords:
CDH23DFNB12Saudi Arabiamissense variantsnonsyndromic hearing lossphenotypic variabilitywhole exome sequencing

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