Novel EYA1 variants causing Branchio-oto-renal syndrome


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

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol.98, pp.59-63, 2017 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 98
  • Publication Date: 2017
  • Doi Number: 10.1016/j.ijporl.2017.04.037
  • Journal Name: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.59-63
  • Keywords: Branchiootorenal syndrome, EYA1, Branchial arch anomalies, Hearing loss, Whole exome sequencing, BOR SYNDROME, HEARING-LOSS, CHROMOSOME 8Q, GENE, LOCALIZATION, DISEASE, LINKAGE, FAMILY, REGION, EAR

Abstract

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.