Morisada Naoya, Nozu Kandai, Iijima Kazumoto
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Pediatr Int. 2014 Jun;56(3):309-14. doi: 10.1111/ped.12357.
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.
鳃耳肾（BOR）综合征是一种常染色体显性疾病，其特征为鳃源性畸形、听力丧失和肾脏异常。在西方国家，BOR综合征的患病率为1/40000，2009 - 2010年日本的全国性监测发现了约250例BOR患者。迄今为止，已报道了BOR综合征的三个致病基因：EYA1、SIX1和SIX5，但所有BOR患者中约一半的致病基因仍不清楚。这篇综述文章讨论了BOR综合征的流行病学、临床症状、遗传背景和管理。
