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Article

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

American journal of medical genetics. Part A - 1 Jan 2018

Guan Jing, Wang Hongyang, Lan Lan, Wang Li, Yang Ju, Xie Linyi, Yin Zifang, Xiong Wenping, Zhao Lidong, Wang Dayong, Wang Qiuju

Abstract excerpt

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL. Biallelic mutations in the PDZD7 gene have been reported in two German families, four Iranian families, and a Pakistani family with ARNSHL. The effect of PDZD7 on ARNSHL in other population has yet to be elucidated. Two Chinese ARNSHL families, each of which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29048736
DOI: 10.1002/ajmg.a.38477
PMCID: PMC5765442

Genes

PDZD7
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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