Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil K. D., Greenland C. M., ArsIan S., Paneque A. L., GÜRKAN H., Ulusal S. D., ...Daha Fazla

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.98, ss.59-63, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 98
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ijporl.2017.04.037
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.59-63
  • Anahtar Kelimeler: Branchiootorenal syndrome, EYA1, Branchial arch anomalies, Hearing loss, Whole exome sequencing, BOR SYNDROME, HEARING-LOSS, CHROMOSOME 8Q, GENE, LOCALIZATION, DISEASE, LINKAGE, FAMILY, REGION, EAR
  • Marmara Üniversitesi Adresli: Evet

Özet

Introduction: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIXI. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing.