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

7 Citations (Scopus)

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
Pages (from-to)305-307
Number of pages3
JournalBiochemical and Biophysical Research Communications
Volume402
Issue number2
DOIs
StatePublished - Nov 12 2010

Fingerprint

Genetic Counseling
Audition
Mutation
Genes
Sensorineural Hearing Loss
Gene Deletion
Pedigree
Fathers
Nonsyndromic Deafness
Parents

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

Cite this

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss : Implication for genetic counseling. / Mahdieh, Nejat; Shirkavand, Atefeh; Raeisi, Marzieh; Akbari, Mohammad Taghi; Tekin, Mustafa; Zeinali, Sirous.

In: Biochemical and Biophysical Research Communications, Vol. 402, No. 2, 12.11.2010, p. 305-307.

Research output: Contribution to journalArticle

@article{45a25181c9044fa6808e38ec4b450928,
title = "Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: Implication for genetic counseling",
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.",
keywords = "De novo mutations, GJB2 gene, Hearing loss, Iranian population",
author = "Nejat Mahdieh and Atefeh Shirkavand and Marzieh Raeisi and Akbari, {Mohammad Taghi} and Mustafa Tekin and Sirous Zeinali",
year = "2010",
month = "11",
day = "12",
doi = "10.1016/j.bbrc.2010.10.021",
language = "English",
volume = "402",
pages = "305--307",
journal = "Biochemical and Biophysical Research Communications",
issn = "0006-291X",
publisher = "Academic Press Inc.",
number = "2",

}

TY - JOUR

T1 - Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss

T2 - Implication for genetic counseling

AU - Mahdieh, Nejat

AU - Shirkavand, Atefeh

AU - Raeisi, Marzieh

AU - Akbari, Mohammad Taghi

AU - Tekin, Mustafa

AU - Zeinali, Sirous

PY - 2010/11/12

Y1 - 2010/11/12

N2 - 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.

AB - 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.

KW - De novo mutations

KW - GJB2 gene

KW - Hearing loss

KW - Iranian population

UR - http://www.scopus.com/inward/record.url?scp=78149466167&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78149466167&partnerID=8YFLogxK

U2 - 10.1016/j.bbrc.2010.10.021

DO - 10.1016/j.bbrc.2010.10.021

M3 - Article

C2 - 20937258

AN - SCOPUS:78149466167

VL - 402

SP - 305

EP - 307

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 0006-291X

IS - 2

ER -