Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.

Abstract:

OBJECTIVE:This paper reports a consanguineous deaf family with three different mutations in the GJB2 gene. DESIGN:Four members of an Iranian deaf family were recruited in this study. The GJB2 coding region and exon-intron boundaries were investigated using direct sequencing. STUDY SAMPLE:The proposita was a 12-year-old girl with congenital non-syndromic hearing loss. She was born to consanguineous parents. The proposita, her parents and deaf maternal uncle were screened for GJB2 mutations. RESULTS:Sequencing demonstrated the presence of the c.176_191del and c.327_328delGGinsA mutations in the proposita, the c.176_191del mutation in her father, and the c.35delG and c.327_328delGGinsA mutations in trans in her apparently unaffected mother as well as in her congenitally deaf uncle. Follow-up pure-tone audiometry revealed moderate to severe mid- and high-frequency hearing loss in the mother. CONCLUSIONS:This study shows the complexity of genetic testing and counseling for hearing loss.

journal_name

Int J Audiol

authors

Davoudi-Dehaghani E,Fallah MS,Shirzad T,Tavakkoly-Bazzaz J,Bagherian H,Zeinali S

doi

10.3109/14992027.2013.850748

subject

Has Abstract

pub_date

2014-02-01 00:00:00

pages

128-31

issue

2

eissn

1499-2027

issn

1708-8186

journal_volume

53

pub_type

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