GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION

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Gulec C., Aslanger A. D., Karaman V., Wollnik B., Tepgec F., Karabey H. K., ...Daha Fazla

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.85, ss.162-169, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 85
  • Basım Tarihi: 2022
  • Doi Numarası: 10.26650/iuitfd.1011501
  • Dergi Adı: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.162-169
  • Anahtar Kelimeler: Sensorineural hearing loss, GJB2 gene, c.35delG alteration, mutation frequency, CONNEXIN 26 MUTATIONS, DIGENIC INHERITANCE, GAP-JUNCTION, HEMICHANNEL ACTIVITY, GJB2 CONNEXIN-26, GENE, PREVALENCE, DIAGNOSIS, COHORT
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients.