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

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

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1027396

DOI=10.3389/fgene.2022.1027396

ISSN=1664-8021

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