Abstract
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA) or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS), we screened 42 genes known to be responsible for human deafness in a Chinese family (Family 3187) in which common deafness mutations had been ruled out as the cause, and identified a novel mutation, c.257–262CCTTTC>GCT (p. Ser86Cys; p. Pro88del) in exon 3 of the TECTA gene in the proband and his extended family. All affected individuals in this family had moderate down-sloping hearing loss across all frequencies. To our knowledge, this is the second TECTA mutation identified in Chinese population. This study demonstrates that targeted genomic capture, MPS, and barcode technology might broaden the availability of genetic testing for individuals with undiagnosed DFNA.
Highlights
Hearing loss is one of the most common sensory disorders in humans
Mutation Analysis of the TECTA Gene We identified a novel mutation
According to the second nationwide survey of the disabled Chinese population performed in 2006, there were 27.80 million people with hearing and speech disabilities in China; of these, 20.04 million have simple hearing disabilities, with genetic factors accounting for about 50% of the Chinese deaf population of Han ethnicity [37]
Summary
Hearing loss is one of the most common sensory disorders in humans. Genetic factors account for more than 50% of the cases with congenital or prelingual hearing loss, with autosomalrecessive (77%), autosomal-dominant (22%), and X-linked (1%) inheritance [1]. A common clinical scenario is the identification of a child with partial hearing loss who slowly progresses to deafness over a period of years. Identification of the responsible mutation in families with autosomal-dominant nonsyndromic hearing loss (ADNSHL) is difficult because mutations in 27 different genes have been identified as causing this common form of deafness (Hereditary Hearing Loss Homepage). Certain gene mutations affect inner ear-specific proteins and can be linked to progressive hair cell degeneration, the mechanisms behind most common causes of progressive hearing loss in childhood are unknown [3]
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