Current status and implication of research on Bardet-Biedl syndrome.
10.3760/cma.j.issn.1003-9406.2013.05.013
- Author:
Tao SHEN
1
;
Xin-min YAN
;
Chun-jie XIAO
Author Information
1. Institute of Basic and Clinical Medicine, the First People's Hospital of Yunnan Province, Center of Clinical Molecular Biology of Yunnan Province, Kunhua Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan 650032, P. R. China. Email: ts902@126.com.
- Publication Type:Journal Article
- MeSH:
Animals;
Bardet-Biedl Syndrome;
complications;
genetics;
metabolism;
Biomedical Research;
Humans;
Obesity;
etiology
- From:
Chinese Journal of Medical Genetics
2013;30(5):570-573
- CountryChina
- Language:Chinese
-
Abstract:
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy, obesity, polydactyly, renal malformations and functional abnormalities, learning disabilities and hypogenitalism. BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease. To date, 16 BBS genes (BBS1-BBS16) have been identified. However, the molecular etiology of BBS is not yet entirely clear. In this article, we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.
