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Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

Title
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
Authors
Park H.-J.Lee S.-J.Jin H.-S.Lee J.O.Go S.-H.Jang H.S.Moon S.-K.Lee S.-C.Chun Y.-M.Lee H.-K.Choi J.-Y.Jung S.-C.Griffith A.J.Koo S.K.
Ewha Authors
정성철
SCOPUS Author ID
정성철scopus
Issue Date
2005
Journal Title
Clinical Genetics
ISSN
0009-9163JCR Link
Citation
vol. 67, no. 2, pp. 160 - 165
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene. In western populations, less than one-half of the affected individuals with EVA have two mutant SLC26A4 alleles, and EVA is frequently caused by unknown genetic or environmental factors alone or in combination with a single SLC26A4 mutation as part of a complex trait. In this study, we ascertained 26 Korean probands with EVA and performed nucleotide sequence analysis to detect SLC26A4 mutations. All subjects had bilateral EVA, and 20 of 26 were sporadic (simplex) cases. Fourteen different mutations were identified, including nine novel mutations. Five mutations were recurrent and accounted for 80% of all mutant alleles, providing a basis for the design and interpretation of cost-efficient mutation detection algorithms. Two mutant alleles were identified in 21 (81%), one mutant allele was detected in three (11%), and zero mutant allele was detected in two (8%) of 26 probands. The high proportion of Korean probands with two SLC26A4 mutations may reflect a reduced frequency of other genetic or environmental factors causing EVA in comparison to western populations. © Blackwell Munksgaard, 2004.
DOI
10.1111/j.1399-0004.2004.00386.x
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의학전문대학원 > 의학과 > Journal papers
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