巴德-毕德氏症候群(英语:Bardet–Biedl syndrome)是一种遗传性疾病,患者出生后会有肥胖、多指、视网膜萎缩、性腺发育不全、肾脏畸形及学习困难等问题。但除视网膜外,大部分症状都具有高度的异质性,即便在同一家族,患者临床表现的差异也极为明显。
其发生率为于各地有不同数字,如北美约为1/100000、瑞典约为1/160000,但科威特地区因近亲通婚比例较高而达至1/13500,而纽芬兰岛可能因为共同祖先,盛行率也有1/17500。
遗传方面,其遗传方式为致病基因有14个,传统上认为其为体染色体隐性遗传,但也可能为较复杂的“三等位基因遗传”,即指在某个BBS对偶基因产生两个突变外,还需要再加上另一个BBS基因的突变才会造成异常。
参考资料
外部链接
- Laurence Moon Bardet Biedl Society (UK-based)
- Bardet Biedl Syndrome Family Association (页面存档备份,存于互联网档案馆) a US-based non-profit providing education, support and resources for families affected by BBS
- Bardet Biedl Syndrome Center of Excellence (页面存档备份,存于互联网档案馆) Housed at the Marshfield Clinic, Wisconsin, USA
- The Importance of Being Cilia (页面存档备份,存于互联网档案馆) Accessible article at Howard Hughes Medical Institute on the importance and extensive use of cilia and basal bodies in many organ systems of human physiology. Includes multiple specific mentions of BBS.
- BBS and loss of the sense of smell (页面存档备份,存于互联网档案馆) at Johns Hopkins University
- Overview (页面存档备份,存于互联网档案馆) at United States National Library of Medicine
- Foundation Fighting Blindness
- Bardet–Biedl Syndrome Association francaise (France-based; in French language) Syndrome de Bardet-Biedl (BBS)
- Bardet–Biedl syndrome at GeneReview/UW/NIH (页面存档备份,存于互联网档案馆)
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