A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family
- Equal contributors
1 Inner Mongolia University for the Nationalities, Tongliao, Inner 028000, Mongolia
2 BGI-Shenzhen, Shenzhen, Guangdong 518083, China
3 Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
4 Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA
BMC Medical Genetics 2014, 15:34 doi:10.1186/1471-2350-15-34Published: 19 March 2014
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.
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.
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.
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.