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Article

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

PloS one - 1 Jan 2013

Li Zhengyue, Guo Yilian, Lu Yu, Li Jianzhong, Jin Zhanguo, Li Hongbo, Lu Yanping, Dai Pu, Han Dongyi, Cheng Jing, Yuan Huijun

Abstract excerpt

Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission of sound to the sensory hair cells. Alpha-tectorin is the most important noncollagenous component of the tectorial membrane and the otolith membrane in the maculae of the vestibular system. Defects in TECTA, the gene encodes alpha-tectorin, are cause of both dominant (DFNA8/12) and recessive (DFNB21) forms of...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23936151
DOI: 10.1371/journal.pone.0070134
PMCID: PMC3729559

Genes

TECTA

Variants

Provenance

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Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.PMID 23936151Read ↗

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].Semantic proximity Read ↗

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.Semantic proximity Read ↗

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A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.Semantic proximity Read ↗

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.Semantic proximity Read ↗

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Semantic proximity Read ↗

Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.Semantic proximity Read ↗

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Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene.Semantic proximity Read ↗

Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing LossSemantic proximity Read ↗

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