Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
SourceAmerican Journal of Human Genetics, 90, 5, (2012), pp. 864-870
Article / Letter to editor
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American Journal of Human Genetics
SubjectNCMLS 6: Genetics and epigenetic pathways of disease IGMD 9: Renal disorder
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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