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

被引：40
作者：
Morisada, Naoya [1 ]
Nozu, Kandai [1 ]
Iijima, Kazumoto [1 ]
机构：
[1] Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo 6500017, Japan
来源：
PEDIATRICS INTERNATIONAL | 2014年 / 56卷 / 03期
关键词：
branchio-oto-renal syndrome; EYA1; hearing loss; renal anomaly; SIX1; TEMPORAL BONE FINDINGS; BOR SYNDROME; EYES ABSENT; BRANCHIOOCULOFACIAL SYNDROME; MUTATION CAUSES; GENE FAMILY; EYA1; SIX1; DROSOPHILA; PATIENT;
D O I：
10.1111/ped.12357
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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 1/40000 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.
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收藏
页码：309 / 314
页数：6
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