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Article

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.

BMC genetics - 1 Feb 2016

Yuan Yongyi, Gao Xue, Huang Bangqing, Lu Jingqiao, Wang Guojian, Lin Xi, Qu Yan, Dai Pu

Abstract excerpt

BACKGROUND: Genetic factors play an important role in hearing loss, contributing to approximately 60% of cases of congenital hearing loss. Autosomal dominant deafness accounts for approximately 20% of cases of hereditary hearing loss. Diseases with autosomal dominant inheritance often show pleiotropy, different degrees of penetrance, and variable expressivity. METHODS: A three-generation Chinese family with...

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Source

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Identifiers

PMID: 26832775
DOI: 10.1186/s12863-016-0333-1
PMCID: PMC4736096

Genes

ACTG1
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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