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Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

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

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.

PMID:
22503633
PMCID:
PMC3376548
DOI:
10.1016/j.ajhg.2012.03.006
[Indexed for MEDLINE]
Free PMC Article
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