2. Academic Validation
  3. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

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

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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