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Open Access 01-12-2014 | Research article

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

Authors: Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu, Qizhu Wu

Published in: BMC Medical Genetics | Issue 1/2014

Abstract

Background

The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians.

Methods

In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes α -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells.

Results

The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highly conserved zona pellucida (ZP) domain of α-tectorin. The mutation is not found in control subjects from the same family with normal hearing and a genotype-phenotype correlation is observed.

Conclusion

A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. Our result indicated that mutation in TECTA gene is responsible for the hearing loss in this Mongolian family.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/15/34/prepub

Title: A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family
Authors: Haihua Bai
Xukui Yang
Temuribagen
Guilan
Suyalatu
Narisu Narisu
Huiguang Wu
Yujie Chen
Yangjian Liu
Qizhu Wu
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2014
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-15-34

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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