Article
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
American journal of human genetics - 4 May 2012
Perrault Isabelle, Saunier Sophie, Hanein Sylvain, Filhol Emilie, Bizet Albane A, Collins Felicity, Salih Mustafa A M, Gerber Sylvie, Delphin Nathalie, Bigot Karine, Orssaud Christophe, Silva Eduardo, Baudouin Véronique, Oud Machteld M, Shannon Nora, Le Merrer Martine, Roche Olivier, Pietrement Christine, Goumid Jamal, Baumann Clarisse, Bole-Feysot Christine, Nitschke Patrick, Zahrate Mohammed, Beales Philip, Arts Heleen H, Munnich Arnold, Kaplan Josseline, Antignac Corinne, Cormier-Daire Valérie, Rozet Jean-Michel
Abstract excerpt
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...
Topics
- Adolescent
- Alleles
- Carrier Proteins
- Cerebellar Ataxia
- Child
- Child, Preschool
- Female
- Fibroblasts