Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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• 作者：Isabelle Perrault¹ ; ¹⁶ ; Sophie Saunier² ; ¹⁶ ; Sylvain Hanein¹ ; Emilie Filhol² ; Albane&#160 ; A. Bizet² ; Felicity Collins³ ; Mustafa&#160 ; A.M. Salih⁴ ; Sylvie Gerber¹ ; Nathalie Delphin¹ ; Karine Bigot⁵ ; Christophe Orssaud⁶ ; Eduardo Silva⁷ ; Vé ; ronique Baudouin⁸ ; Machteld&#160 ; M. Oud⁹ ; Nora Shannon¹⁰ ; Martine Le&#160 ; Merrer¹ ; Olivier Roche⁶ ; Christine Pietrement¹¹ ; Jamal Goumid¹² ; Clarisse Baumann¹² ; Christine Bole-Feysot¹³ ; Patrick Nitschke¹⁴ ; Mohammed Zahrate¹³ ; Philip Beales¹⁵ ; Heleen&#160 ; H. Arts⁹ ; Arnold Munnich¹ ; Josseline Kaplan¹ ; ^{josseline.kaplan@inserm.fr} ; Corinne Antignac² ; Valé ; rie Cormier-Daire¹ ; Jean-Michel Rozet¹ ; ^{jean-michel.rozet@inserm.fr}
• 刊名：The American Journal of Human Genetics
• 出版年：2012
• 出版时间：4 May, 2012
• 年：2012
• 卷：90
• 期：5
• 页码：864-870
• 全文大小：666 K

文摘

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.