Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I,Saunier S,Hanein S,Filhol E,Bizet A,Collins F,Salih M,Gerber S,Delphin N,Bigot K,Orssaud C,Silva E,Baudouin V,Oud M,Shannon N,Le Merrer M,Roche O,Pietrement C,Goumid J,Baumann C,Bole-Feysot C,Nitschke P,Zahrate M,Beales P,Arts H,Munnich A,Kaplan J,Antignac C,Cormier-Daire V,Rozet J
Source :
Am J Hum Genet
2012 Apr 12
Pmid / DOI:
22503633
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.Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.