The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.

Creative Commons License

Küçük K., Altuntaş E. E., Yıldırım M. E., Özdemir Ö., Bağcı B., Sezgin İ.

The journal of international advanced otology, cilt.15, sa.3, ss.373-378, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5152/iao.2019.5401
  • Dergi Adı: The journal of international advanced otology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.373-378
  • Anahtar Kelimeler: Non-syndromic hearing loss, GJB2, 35delG, IVS1+1G > A, mutation, CONNEXIN 26 GENE, HIGH-FREQUENCY, 35DELG MUTATION, GAP-JUNCTION, DEAFNESS, POPULATION, PREVALENCE, CHILDREN, IMPAIRMENT, PHENOTYPE
  • Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

OBJECTIVES: The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropriate genetic counseling for cases who were found to have mutation, and to contribute to decrease the frequency of mutant allele in the next generation and plan treatment and rehabilitation with early diagnosis.