Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.

Autosomal recessive non-syndromic hearing loss is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of Biallelic mutations in the PDZD7 gene have been reported in two German families, four Iranian families, and a Pakistani family with Aduanyu1668HL. The effect of PDZD7 on in other population has yet to be elucidated. Two Chinese Aduanyu1668HL families, each of which had two affected siblings, were included in this study. The families underwent target region capture and high-throughput sequencing to analyze the exonic, splice-site, and intronic sequences of 128 genes. Furthermore, 1751 normal Chinese individuals served as controls, and 122 Chinese families segregating with apparent who had been previously excluded for variants in the common deafness genes GJB2 and SLC26A4, were subjected to screening for candidate mutations. We identified a novel homozygous missense mutation (p.Arg66Leu) and novel compound heterozygous frameshift mutations (p.Arg56fsTer24 and p.His403fsTer36) in Chinese families with Aduanyu1668HL. This is the first report to identify PDZD7 as an gene in the Chinese population. Our finding could expand the pathogenic spectrum and strengthens the clinical diagnostic role of the PDZD7 gene in Aduanyu1668HL patients.

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