International journal of pediatric otorhinolaryngology, vol.98, pp.59-63, 2017 (Peer-Reviewed Journal)
Article / Article
International journal of pediatric otorhinolaryngology
Science Citation Index Expanded, Scopus
Branchiootorenal syndrome, EYA1, Branchial arch anomalies, Hearing loss, Whole exome sequencing, BOR SYNDROME, HEARING-LOSS, CHROMOSOME 8Q, GENE, LOCALIZATION, DISEASE, LINKAGE, FAMILY, REGION, EAR
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.