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Article

Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene.

Gene - 15 Jan 2012

Sagong Borum, Park Hong-Joon, Lee Kyu-Yup, Kim Un-Kyung

Abstract excerpt

Mutations of the TECTA gene, which encodes alpha-tectorin, are associated with both dominant (DFNA8/A12) and recessive (DFNB 21) modes of inherited nonsyndromic sensorineural hearing loss, respectively. Although clinical data and genetic analysis for TECTA gene have been reported from different groups, there is no report that compound heterozygous mutations in the TECTA gene result in nonsyndromic sensorineural...

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Identifiers

PMID: 22037481
DOI: 10.1016/j.gene.2011.10.022

Genes

TECTA

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Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene.PMID 22037481Read ↗

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A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.Semantic proximity Read ↗

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

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