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Review
. 2014 Jun;56(3):309-14.
doi: 10.1111/ped.12357.

Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan

Naoya Morisada  1 , Kandai Nozu, Kazumoto Iijima
Affiliations
Review

Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan

Naoya Morisada et al. Pediatr Int. 2014 Jun.

Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome.

Keywords: EYA1; SIX1; branchio-oto-renal syndrome; hearing loss; renal anomaly.

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