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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Isabelle Perrault1, Sophie Saunier, Sylvain Hanein

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

American Journal of Human Genetics
|April 17, 2012
PubMed

Insights

Mutations in IFT140 cause Mainzer-Saldino syndrome, a rare disorder affecting kidney and eye function. This finding highlights the critical role of intraflagellar transport in ciliary health and disease.

Area of Science:

  • Genetics
  • Cell Biology
  • Rare Diseases

Background:

  • Mainzer-Saldino syndrome (MSS) is a rare genetic disorder.
  • Key features include cone-shaped epiphyses, renal failure, and retinal dystrophy.

Purpose of the Study:

  • To identify the genetic cause of Mainzer-Saldino syndrome.
  • To investigate the role of IFT140 in ciliary function.

Main Methods:

  • Ciliome resequencing
  • Sanger sequencing
  • Fibroblast analysis

Main Results:

  • IFT140 mutations were identified in six MSS families and one Jeune syndrome family.
  • IFT140 is a component of the intraflagellar transport complex A (IFT-A).
  • Altered ciliary transport of proteins in affected individuals' fibroblasts.

Conclusions:

  • IFT140 mutations are a cause of Mainzer-Saldino syndrome and potentially Jeune syndrome.
  • IFT140 is crucial for the development and function of ciliated cells.
  • This research deepens understanding of ciliopathies.

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