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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...

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Source

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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