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Article

Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2018

Jiang Yi, Gao Song, Wu Lihua, Jin Xiaohua, Deng Tao, Wang Ligang, Huang Shasha, Gao Xue, Chen Juan, Han Dongyi, Gao Huafang, Dai Pu

Abstract excerpt

To analyze the spectrum and founder effect of TMC1 mutations in patients with non-syndromic deafness in the Xiamen area. Sporadic pedigrees were detected by targeted next-generation sequencing, and 110 unrelated patients from Xiamen Special Education School were analyzed through Sanger sequencing for the TMC1 gene. In total, 53 SNPs were designed to analyze the haplotypes of the TMC1 c.2050G>C mutation. The...

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Identifiers

PMID: 29533536
DOI: 10.1002/ajmg.b.32603
PMCID: PMC5888129

Genes

TMC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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