Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: Implication for genetic counseling

Nejat Mahdieh, Atefeh Shirkavand, Marzieh Raeisi, Mohammad Taghi Akbari, Mustafa Tekin, Sirous Zeinali

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss (HL). A few mutations in GJB2 have also been reported to cause dominant nonsyndromic HL. Here we report a large inbred family including two individuals with nonsyndromic sensorineural hearing loss. A dominant GJB2 mutation, c.551G>A (p.R184Q), was detected in the proband, yet his parents were negative for the mutation. The second affected person had heterozygous c.35delG mutation, which was inherited from his father. Large deletions of the GJB6 gene were not detected in this family. This study highlights the importance of mutation analysis in all affected cases within a pedigree.

Original languageEnglish (US)
Pages (from-to)305-307
Number of pages3
JournalBiochemical and biophysical research communications
Volume402
Issue number2
DOIs
StatePublished - Nov 12 2010

Keywords

  • De novo mutations
  • GJB2 gene
  • Hearing loss
  • Iranian population

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

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