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Article

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.

BMC medical genetics - 1 Jun 2020

Zhou Bingxin, Yu Lili, Wang Yan, Shang Wenjing, Xie Yi, Wang Xiong, Han Fengchan

Abstract excerpt

BACKGROUND: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP - 4 and TRIOBP-1. Among them, TRIOBP-5/- 4 are expressed in the inner ears and crucial for maintaining the structure and function of the...

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Identifiers

PMID: 32487028
DOI: 10.1186/s12881-020-01055-5
PMCID: PMC7268695

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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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