Novel EYA1 variants causing Branchio-oto-renal syndrome

Publication date: July 2017
Source:International Journal of Pediatric Otorhinolaryngology, Volume 98
Author(s): 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, Joseph Foster, Shengru Guo, Sebastian Escarfuller, Filiz Basak Cengiz, Duygu Duman, Guney Bademci, Mustafa Tekin
IntroductionBranchio-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.Methods and materialsWhole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study.ResultsWe identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families.ConclusionsA variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.



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