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

作者：Bai, Haihua^*; Yang, Xukui; Temuribagen; Guilan; Suyalatu; Narisu, Narisu; Wu, Huiguang; Chen, Yujie; Liu, Yangjian; Wu, Qizhu

来源：BMC Medical Genetics, 2014, 15(1): 34.

DOI：10.1186/1471-2350-15-34

• TECTA gene
• Mongolian family
• Autosomal dominant nonsyndromic hearing loss

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 alpha - 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 alpha 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.

• 出版日期2014-3-19
• 单位内蒙古民族大学; 深圳华大生命科学研究院