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
Affiliations
  • 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.