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Article

[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population].

Zhonghua yi xue za zhi - 27 Nov 2007

Sun Qing, Yang Shu-Zhi, Kang Dong-Yang, Zhang Xin, Cao Ju-Yang, Liu Xin, Dai Pu, Yuan Hui-Jun, Han Dong-Yi

Abstract excerpt

OBJECTIVE: To investigate the mutational of the coagulation factor C homology (COCH) gene related to autosomal dominant sensorineural nonsyndromic hearing loss (DFNA) with late onset in Chinese population. METHODS: Peripheral blood samples were collected from he members of 26 DFNA families, members of 19 small DFNA families with un recognized inheritance pattern, and 22 sporadic patients with sensorineural...

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Source

Identifiers

PMID: 18269866

Genes

COCH

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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[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population].PMID 18269866Read ↗

[Phenotype predictions of the pathogenic nonsynonymous single nucleotide polymorphisms in deafness-causing gene COCH].Semantic proximity Read ↗

A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.Semantic proximity Read ↗

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.Semantic proximity Read ↗

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.Semantic proximity Read ↗

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.Semantic proximity Read ↗

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsSemantic proximity Read ↗

[Audiological and vestibular evaluation of new coagulation factor C homology mutation carriers in a Chinese family].Semantic proximity Read ↗

[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].Semantic proximity Read ↗

[Genetic and audiological characters of a Chinese family with non-syndromic hereditary hearing loss].Semantic proximity Read ↗

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A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.Semantic proximity Read ↗

A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.Semantic proximity Read ↗

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