Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

Mol Cell Probes. 2017 Jun:33:24-27. doi: 10.1016/j.mcp.2017.03.001. Epub 2017 Mar 3.

Abstract

The paper describes a putative digenic form of deafness in two siblings affected by non-syndromic hereditary hearing loss, detected by a Targeted resequencing approach. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.

Keywords: Digenic inheritance; Hearing loss; Targeted resequencing.

MeSH terms

  • Adolescent
  • Child
  • Connexin 26
  • Connexins / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / physiopathology
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Neoplasm Proteins / genetics*
  • Sequence Analysis, DNA
  • Serine Endopeptidases / genetics*
  • Siblings

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Proteins
  • Neoplasm Proteins
  • Connexin 26
  • Serine Endopeptidases
  • TMPRSS3 protein, human