A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

PLoS One. 2013 Sep 6;8(9):e73566. doi: 10.1371/journal.pone.0073566. eCollection 2013.

Abstract

The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connexin-26) [corrected] gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound and usually appears before the acquisition of speech (prelingual onset), though a small number of hypomorphic missense mutations result in mild or moderate deafness of postlingual onset. We identified a novel GJB2 splice-site mutation, c. -22-2A>C, in three siblings with mild postlingual hearing impairment that were compound heterozygous for c. -22-2A>C and c.35delG. Reverse transcriptase-PCR experiments performed on total RNA extracted from saliva samples from one of these siblings confirmed that c. -22-2A>C abolished the acceptor splice site of the single GJB2 intron, resulting in the absence of normally processed transcripts from this allele. However, we did isolate transcripts from the c. -22-2A>C allele that keep an intact GJB2 coding region and that were generated by use of an alternative acceptor splice site previously unknown. The residual expression of wild-type connexin-26 [corrected] encoded by these transcripts probably underlies the mild severity and late onset of the hearing impairment of these subjects.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Connexin 26
  • Connexins / genetics*
  • Female
  • Genotype
  • Hearing Loss / genetics*
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Protein Isoforms / genetics

Substances

  • Connexins
  • GJB2 protein, human
  • Protein Isoforms
  • Connexin 26

Grants and funding

M.G. was a recipient of a Formación de Personal Investigador fellowship from Ministerio de Educación y Ciencia. This work was supported by grants from Instituto de Salud Carlos III FIS CP06/00050 (to F.J.d.C.) and FIS PI11/00612 (to I.d.C.), from Ministerio de Ciencia e Innovación SAF 2008-03216 (to F.M.), and from Fundación Ramón Areces (to I.d.C.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.