Congenital deafness: High prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar

Ruszymah Idrus, Farah Wahida Ibrahim, Y. Zakinah, Z. Zahari, M. D. Norazlinda, L. Saim, B. S. Aminuddin

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Twenty percent of all childhood deafness is due to mutations in the GJB2 gene (Connexin 26). The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in childhood deafness in Malaysia. We analyzed the GJB2 gene in 51 deaf students from Sekolah Pendidikan Khas Alor Setar, Kedah. Bidirectional sequencing indicates that 25% of our childhood deafness has mutation in their GJB2 gene. Sixty two percent of these children demonstrate V37I missense mutation. Interestingly, V37I mutation in the GJB2 gene have been reported as polymorphism in Western countries, however in our country it behaved as a potentially disease-causing missense mutation, causing childhood deafness as it was not found in the normal control.

Original languageEnglish
Pages (from-to)269-274
Number of pages6
JournalMedical Journal of Malaysia
Volume60
Issue number3
Publication statusPublished - 2005

Fingerprint

Deafness
Mutation
Missense Mutation
Genes
Malaysia
Students

Keywords

  • Congenital childhood deafness
  • Connexin 26
  • GJB2
  • Mutation
  • V37I

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Congenital deafness : High prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar. / Idrus, Ruszymah; Ibrahim, Farah Wahida; Zakinah, Y.; Zahari, Z.; Norazlinda, M. D.; Saim, L.; Aminuddin, B. S.

In: Medical Journal of Malaysia, Vol. 60, No. 3, 2005, p. 269-274.

Research output: Contribution to journalArticle

Idrus, Ruszymah ; Ibrahim, Farah Wahida ; Zakinah, Y. ; Zahari, Z. ; Norazlinda, M. D. ; Saim, L. ; Aminuddin, B. S. / Congenital deafness : High prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar. In: Medical Journal of Malaysia. 2005 ; Vol. 60, No. 3. pp. 269-274.
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