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J Pediatr Genet 2013; 02(02): 077-083
DOI: 10.3233/PGE-13051
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Bardet-Biedl syndrome: A rare genetic disease

Diana Valverde
a   Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain
,
Sheila Castro-Sánchez
a   Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain
,
María Álvarez-Satta
a   Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Spain
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Publication History

08 October 2012

12 April 2013

Publication Date:
27 July 2015 (online)

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Bardet-Biedl syndrome: A rare genetic diseaseJ Pediatr Genet 2013; 02(03): 171-171
DOI: 10.3233/PGE-13057

Abstract

Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features. There are 17 BBS genes (BBS1-BBS17) described to date, which explain 70–80% of the patients clinically diagnosed, therefore more BBS genes remain to be identified. BBS belongs to a group of diseases known as ciliopathies. In general, ciliopathies and BBS in particular share a partial overlapping phenotype that makes them complicated to diagnose. We present an up-to-date review including clinical, epidemiologic and genetic aspects of the syndrome.

Keywords

Bardet-Biedl syndrome - ciliopathy - BBS genes - BBS proteins