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Article

Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.

Mutation research - 1 Jan 2015

Lin Yin-Hung, Wu Chen-Chi, Hsu Tun-Yen, Chiu Wei-Yih, Hsu Chuan-Jen, Chen Pei-Lung

Abstract excerpt

Recent studies have confirmed the utility of massively parallel sequencing (MPS) in addressing genetically heterogeneous hereditary hearing impairment. By applying a MPS diagnostic panel targeting 129 known deafness genes, we identified a novel frameshift GATA3 mutation, c.149delT (p.Phe51LeufsX144), in a hearing-impaired family compatible with autosomal dominant inheritance. The GATA3 haploinsufficiency is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25771973
DOI: 10.1016/j.mrfmmm.2014.11.001

Genes

GATA3

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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