Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006.

Isabelle Perrault ¹, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A Bizet, Felicity Collins, Mustafa A M Salih, Sylvie Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Pietrement, Jamal Goumid, Clarisse Baumann, Christine Bole-Feysot, Patrick Nitschke, Mohammed Zahrate, Philip Beales, Heleen H Arts, Arnold Munnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

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Affiliation

1 INSERM U781 & Department of Genetics, Paris Descartes University, Paris, France.

PMID: 22503633 DOI: 10.1016/j.ajhg.2012.03.006

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.

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