Article
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Journal of medical genetics - 1 Oct 2015
Perrault Isabelle, Halbritter Jan, Porath Jonathan D, Gérard Xavier, Braun Daniela A, Gee Heon Yung, Fathy Hanan M, Saunier Sophie, Cormier-Daire Valérie, Thomas Sophie, Attié-Bitach Tania, Boddaert Nathalie, Taschner Michael, Schueler Markus, Lorentzen Esben, Lifton Richard P, Lawson Jennifer A, Garfa-Traore Meriem, Otto Edgar A, Bastin Philippe, Caillaud Catherine, Kaplan Josseline, Rozet Jean-Michel, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Bidirectional intraflagellar transport (IFT) consists of two major protein complexes, IFT-A and IFT-B. In contrast to the IFT-B complex, all components of IFT-A have recently been linked to human ciliopathies when defective. We therefore hypothesised that mutations in additional IFT-B encoding genes can be found in patients with multisystemic ciliopathies. METHODS: We screened 1628 individuals with...
Topics
- Cilia
- Eye
- Humans
- Kidney
- Muscle Proteins
- Mutation
- Sequence Analysis, DNA