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

doi:10.1016/j.bbrc.2010.10.021

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

Biochem Biophys Res Commun. 2010 Nov 12;402(2):305-7. doi: 10.1016/j.bbrc.2010.10.021. Epub 2010 Oct 19.

Authors

Nejat Mahdieh¹, Atefeh Shirkavand, Marzieh Raeisi, Mohammad Taghi Akbari, Mustafa Tekin, Sirous Zeinali

Affiliation

¹ Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

PMID: 20937258
DOI: 10.1016/j.bbrc.2010.10.021

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.

MeSH terms

Connexin 26
Connexins / genetics*
Female
Genes, Dominant*
Genetic Counseling
Hearing Loss, Sensorineural / genetics*
Humans
Iran
Male
Mutation
Pedigree

Substances

Connexins
GJB2 protein, human
Connexin 26