GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana

Exp Biol Med (Maywood). 2020 Sep;245(15):1355-1367. doi: 10.1177/1535370220931035. Epub 2020 Jun 11.

Abstract

Although connexins are known to be the major genetic factors associated with HI, only a few studies have investigated GJB4 and GJC3 variants among hearing-impaired patients. This study is the first to report GJB4 and GJC3 variants from an African HI cohort. We have demonstrated that GJB4 and GJC3 genes may not contribute significantly to HI in Ghana, hence these genes should not be considered for routine clinical screening in Ghana. However, it is important to study a larger population to determine the association of GJB4 and GJC3 variants with HI.

Keywords: GJB4; GJC3; hearing impairment; in silico; protein modeling; virtual screening.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acids / genetics
  • Base Sequence
  • Connexins / chemistry
  • Connexins / genetics*
  • Deafness / genetics*
  • Evolution, Molecular
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genetic Variation*
  • Ghana
  • Humans
  • Models, Molecular
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics
  • Nerve Tissue Proteins / genetics*

Substances

  • Amino Acids
  • Connexins
  • GJC3 protein, human
  • Mutant Proteins
  • Nerve Tissue Proteins
  • connexin 30.3

Supplementary concepts

  • Nonsyndromic Deafness