title: Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
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.
authors.affiliation: Soree Ear Clinic, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, Korea.
authors.forename: H-J
authors.initials: HJ
authors.lastname: Park
authors.forename: S-J
authors.initials: SJ
authors.lastname: Lee
authors.forename: H-S
authors.initials: HS
authors.lastname: Jin
authors.forename: J O
authors.initials: JO
authors.lastname: Lee
authors.forename: S-H
authors.initials: SH
authors.lastname: Go
authors.forename: H S
authors.initials: HS
authors.lastname: Jang
authors.forename: S-K
authors.initials: SK
authors.lastname: Moon
authors.forename: S-C
authors.initials: SC
authors.lastname: Lee
authors.forename: Y-M
authors.initials: YM
authors.lastname: Chun
authors.forename: H-K
authors.initials: HK
authors.lastname: Lee
authors.forename: J-Y
authors.initials: JY
authors.lastname: Choi
authors.forename: S-C
authors.initials: SC
authors.lastname: Jung
authors.forename: A J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: S K
authors.initials: SK
authors.lastname: Koo
mesh_terms: D000293:Adolescent; D000328:Adult; D001692:Biological Transport; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D034381:Hearing Loss / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D000076988:Sulfate Transporters; D013431:Sulfates; D014723:Vestibular Aqueduct / Q000473:pathology*
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates