Exploring the molecular basis of Bardet-Biedl syndrome

被引:103
作者
Katsanis, N [1 ]
Lupski, JR
Beales, PL
机构
[1] Texas Childrens Hosp, Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] UCL, Inst Child Hlth, Mol Med Unit, London, England
关键词
D O I
10.1093/hmg/10.20.2293
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impairment and gonadal and renal dysgenesis. This relatively rare condition has been reported frequently, but we have only recently begun to appreciate the genetic complexities that give rise to this constellation of clinical findings. During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. Here we review the key elements of the phenotype and discuss the significance of the discovery of the first three BBS genes on the effort to identify the cellular causes of this syndrome.
引用
收藏
页码:2293 / 2299
页数:7
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