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Molecular Genetic Analysis of Connexin 26 in Korean Congenital Hearing Loss

Other Title
한국인 선천성 난청에서 Connexin 26의 분자유전학적 분석
박, 홍준; 박, 기현; 정, 연훈; 최, 호석; 송, 정환
Taehan Ibi Inhukwa Hakhoe chi, 43(4):357-362, 2000
Journal Title
Taehan Ibi Inhukwa Hakhoe chi; Journal of the Korean Otolaryngological Society; 대한이비인후과학회지
Background and Objectives : Congenital deafness is a relatively common disorder and its’ incidence is as

high as 1 per every 1,000 newborn infants. In developed countries, genetic hearing loss accounts for 50%

of all hearing losses. A least 20 autosomal recessive loci had been identified, and in 1997, Connexin 26,

one of the gap-junction proteins, was found to be the main mutant gene of non-syndromic congenital

sensorineural hearing loss. The objective of this study is the investigation of the clinical features and

characteristics of connexin 26 mutation in congenital deaf patients in Korea.

Materials and Methods : Fifty-one patients who have visited the out-patient department of Ajou

University Hospital and 125 patients attending two special schools for deafness were physically examined.

Family history of each patient was also examined. One hundred normal hearing infants who were

audiologically approved were selected as a control group. With their blood samples, we performed DNA

extraction and sequenced PCR products.

Results : Among 176 patients, 53 patients had family history of hearing impairment, and 16 patients

actually showed syndromic features. We sequenced Connexin 26 in 121 patients who have congenital

non-syndromic sensorineural hearing loss. Two heterozygotes of 35delG, three heterozygotes, four

homozygotes of 235delC, 35 heterozygotes, and four homozygotes of E114G were observed.

Conclusion : Family history of deafness was relatively common among the patients and therefore it was

an important factor in deciding that hearing loss was due to genetic origin. Syndromic hearing loss

occupies a relatively minor portion of congenital deafness. With regard to Connexin 26 mutation, 35delG is

reported as the major gene mutation in the western countries, but in our study, only 2 patients had this

type of mutation. Therefore, 235 delC and E114G can be considered as race specific gene mutations, even

though further studies are needed.
Congenital non-syndromic sensorineural hearing lossAutosomal recessiveConnexin 26
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Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
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