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Article

A novel TECTA mutation causes ARNSHL.

International journal of pediatric otorhinolaryngology - 1 Jan 2017

Asgharzade Samira, Tabatabaiefar Mohammad Amin, Modarressi Mohammad Hossein, Ghahremani Mohammad Hossein, Reiisi Somayeh, Tahmasebi Parisa, Abdollahnejad Fatemeh, Chaleshtori Morteza Hashemzadeh

Abstract excerpt

OBJECTIVE: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL). METHODS: 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in...

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Source

Identifiers

PMID: 28012541
DOI: 10.1016/j.ijporl.2016.11.010

Genes

TECTA
GJB2

Provenance

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A novel TECTA mutation causes ARNSHL.PMID 28012541Read ↗

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

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Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.Semantic proximity Read ↗

Ultrarare missense and frameshift variants in the <i>TECTA</i> gene may involve tectorial membrane in familial Meniere diseaseSemantic proximity Read ↗

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