梅因策尔-萨尔迪诺综合征是一种由 IFT140 突变引起的纤毛病。
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
机构信息
INSERM U781 & Department of Genetics, Paris Descartes University, Paris, France.
出版信息
Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.
Abstract
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.
摘要
梅因泽-萨迪诺综合征（MSS）是一种罕见疾病，其特征为指（趾）骨锥形骨骺、慢性肾衰竭和发病早且严重的视网膜营养不良。通过对纤毛组测序和 Sanger 测序的结合，我们在六个 MSS 家族和一个具有临床重叠的杰因综合征的家族中发现了 IFT140 突变。IFT140 是目前已知的六个内鞭毛运输复合物 A（IFT-A）的组成部分之一，该复合物调节纤毛细胞中的逆行蛋白运输。受影响个体的成纤维细胞中，纤毛的丰度和正向 IFT 的定位发生改变，这一结果支持 IFT140 在纤毛细胞的正常发育和功能中的关键作用。
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