Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

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 (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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cerebellar Ataxia / genetics*
  • Child
  • Child, Preschool
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Protein Transport / genetics
  • Retinitis Pigmentosa / genetics*


  • Carrier Proteins

Supplementary concepts

  • Mainzer-Saldino Disease