A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

PLoS One. 2014 Feb 21;9(2):e89240. doi: 10.1371/journal.pone.0089240. eCollection 2014.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Audiometry, Pure-Tone
  • China
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Deafness / physiopathology
  • Extracellular Matrix Proteins / genetics*
  • Female
  • GPI-Linked Proteins / genetics
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Extracellular Matrix Proteins
  • GPI-Linked Proteins
  • TECTA protein, human

Grants and funding

This work was supported by Chinese National Nature Science Foundation Research Grant (81070792), the National Basic Research Program of China (973 Program) (#2013CB945402) to HD. The Project of the National Natural Science Foundation of China (Grant No. 81230020), a grant from State 863 High Technology R&D Key Project of China (2011AA02A112), a grant from Natural Science Foundation of Beijing (Grant No 7122172), a grant from Minister of Science and Technology of China (2012BAI09B02) and a grant from Minister of Health of China (201202005) to PD, China postdoctoral granted financial support and speccial financial grant (No. 20120481482 & 201104779) to YS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.