A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss
BALKAN MEDICAL JOURNAL, cilt.35, sa.2, ss.196-198, 2018 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Editöre Mektup
- Cilt numarası: 35 Sayı: 2
- Basım Tarihi: 2018
- Doi Numarası: 10.4274/balkanmedj.2017.0946
- Dergi Adı: BALKAN MEDICAL JOURNAL
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.196-198
- Anahtar Kelimeler: Hearing loss, SYNE4 gene, high-throughput DNA sequencing, NUCLEAR
- Ankara Üniversitesi Adresli: Evet
Özet
Background: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families.