Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 22503633.
- Also identified by DOI 10.1016/j.ajhg.2012.03.006 and PMC identifier 3376548.
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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.
Medical subject headings
- Carrier Proteins
- Cerebellar Ataxia
- Mutation
- Retinitis Pigmentosa