Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.
OBJECTIVE
This paper reports a consanguineous deaf family with three different mutations in the GJB2 gene.


METHODS
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.


METHODS
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.
* Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran.
Elham
E
Davoudi-Dehaghani
Mohammad-Sadegh
MS
Fallah
Tina
T
Shirzad
Javad
J
Tavakkoly-Bazzaz
Hamideh
H
Bagherian
Sirous
S
Zeinali
D001301:Audiometry, Pure-Tone; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007438:Introns; D007492:Iran; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26