Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

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 SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing.

Source: International Journal of Pediatric Otorhinolaryngology Extra - April 18, 2017 Category: ENT & OMF Authors: Kyle D. Klingbeil, Christopher M. Greenland, Selcuk Arslan, Arianne Llamos Paneque, Hakan Gurkan, Selma Demir Ulusal, Reza Maroofian, Andrea Carrera-Gonzalez, Stefany Montufar-Armendariz, Rosario Paredes, Nursel Elcioglu, Ibis Menendez, Mahdiyeh Behnam, J Source Type: research