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

H. J. Park, S. J. Lee, H. S. Jin, J. O. Lee, S. H. Go, H. S. Jang, S. K. Moon, S. C. Lee, Y. M. Chun, H. K. Lee, J. Y. Choi, S. C. Jung, A. J. Griffith, Soo Kyung Koo

Research output: Contribution to journalArticlepeer-review

113 Scopus citations

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.

Original languageEnglish
Pages (from-to)160-165
Number of pages6
JournalClinical Genetics
Volume67
Issue number2
DOIs
StatePublished - Feb 2005

Keywords

  • DFNB4
  • Non-syndromic deafness
  • Pendred syndrome
  • SLC26A4

Fingerprint

Dive into the research topics of 'Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans'. Together they form a unique fingerprint.

Cite this