Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
- Perrault, Isabelle
- Saunier, Sophie
- Hanein, Sylvain
- Filhol, Emilie
- Bizet, Albane A.
- Collins, Felicity
- Salih, Mustafa A.M.
- Gerber, Sylvie
- Delphin, Nathalie
- Bigot, Karine
- Orssaud, Christophe
- Silva, Eduardo
- Baudouin, Véronique
- Oud, Machteld M.
- Shannon, Nora
- Le Merrer, Martine
- Roche, Olivier
- Pietrement, Christine
- Goumid, Jamal
- Baumann, Clarisse
- Bole-Feysot, Christine
- Nitschke, Patrick
- Zahrate, Mohammed
- Beales, Philip
- Arts, Heleen H.
- Munnich, Arnold
- Kaplan, Josseline
- Antignac, Corinne
- Cormier-Daire, Valérie
- Rozet, Jean-Michel
Publication date
May 2012
DOI Publisher
The American Society of Human Genetics. Published by Elsevier Inc.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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