Frontiers in Genetics (Nov 2022)

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

  • Baoling Kang,
  • Xinshu Lu,
  • Jianjun Xiong,
  • Jianjun Xiong,
  • Yuan Li,
  • Jinwen Zhu,
  • Tao Cai

DOI
https://doi.org/10.3389/fgene.2022.1027396
Journal volume & issue
Vol. 13

Abstract

Read online

Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families.Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members.Results: In the present study, we report the identification of four compound heterozygous variants in the CDH23 gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W).Conclusion: Our findings significantly expanded the mutation spectrum of CDH23-associated autosomal recessive hearing loss.

Keywords