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Article

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

BMC medical genetics - 4 Sept 2018

Su Yu, Gao Xue, Huang Sha-Sha, Mao Jing-Ning, Huang Bang-Qing, Zhao Jian-Dong, Kang Dong-Yang, Zhang Xin, Dai Pu

Abstract excerpt

BACKGROUND: Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in two Chinese families displaying X-linked inheritance deafness-2 (DFNX2) and one sporadic case with indefinite inheritance pattern. METHODS: Direct DNA sequencing of the POU3F4 gene was performed...

Topics

Amino Acid Sequence
Asian People
Ear, Inner
Female
Genes, X-Linked
Genetic Diseases, X-Linked
Hearing Loss
Hearing Loss, Conductive
Hearing Loss, Sensorineural
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

POU Domain Factors

Pedigree

Temporal Bone

Source

Open in PubMed Open full text

Identifiers

PMID: 30176854
DOI: 10.1186/s12881-018-0630-9
PMCID: PMC6122742

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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