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

被引：46

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.

引用

页码：309 / 314

页数：6

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