CAJ | 학술논문

巴德-毕氏综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性遗传疾病,由Bardet 和Biedl在1920年首次报道.BBS具有高度的遗传异质性,其临床症状包括视网膜营养不良、肥胖、多指/趾、肾畸形或肾功异常、学习障碍及性腺发育不全等.BBS患者常伴糖尿病、高血压及先心病等继发症状.迄今已发现16个BBS基因(BBS1～BBS16)异常可以导致BBS表型,但其分子致病机制仍不完全清楚.
파덕-필씨종합정(Bardet-Biedl syndrome,BBS)시일충한견적상염색체은성유전질병,유Bardet 화Biedl재1920년수차보도.BBS구유고도적유전이질성,기림상증상포괄시망막영양불량、비반、다지/지、신기형혹신공이상、학습장애급성선발육불전등.BBS환자상반당뇨병、고혈압급선심병등계발증상.흘금이발현16개BBS기인(BBS1～BBS16)이상가이도치BBS표형,단기분자치병궤제잉불완전청초.
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.