Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss

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Yilmaz A., Menevse S., Bayazit Y., Karamert R., Ergin V., Menevse A.

BIOCHEMICAL GENETICS, cilt.48, ss.248-256, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1007/s10528-009-9314-7
  • Dergi Adı: BIOCHEMICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.248-256
  • Anahtar Kelimeler: Connexin 26, Mutation, Hearing loss, Turkish, GJB2 MUTATIONS, SENSORINEURAL DEAFNESS, GAP-JUNCTION, PRELINGUAL DEAFNESS, HIGH-FREQUENCY, M34T VARIANT, IDENTIFICATION, POPULATION, IMPAIRMENT, PREVALENCE
  • Gazi Üniversitesi Adresli: Evet

Özet

Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases.