Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
International Journal of Pediatric Otorhinolaryngology, cilt.101, ss.167-171, 2017 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 101
- Basım Tarihi: 2017
- Doi Numarası: 10.1016/j.ijporl.2017.08.006
- Dergi Adı: International Journal of Pediatric Otorhinolaryngology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.167-171
- Anahtar Kelimeler: Hearing loss, SLC26A4, Whole exome sequencing
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objectives The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. Methods Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. Results We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. Conclusion A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.