Ontology highlight
ABSTRACT:
SUBMITTER: Perrault I
PROVIDER: S-EPMC3376548 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Perrault Isabelle I Saunier Sophie S Hanein Sylvain S Filhol Emilie E Bizet Albane A AA Collins Felicity F Salih Mustafa A M MA Gerber Sylvie S Delphin Nathalie N Bigot Karine K Orssaud Christophe C Silva Eduardo E Baudouin Véronique V Oud Machteld M MM Shannon Nora N Le Merrer Martine M Roche Olivier O Pietrement Christine C Goumid Jamal J Baumann Clarisse C Bole-Feysot Christine C Nitschke Patrick P Zahrate Mohammed M Beales Philip P Arts Heleen H HH Munnich Arnold A Kaplan Josseline J Antignac Corinne C Cormier-Daire Valérie V Rozet Jean-Michel JM
American journal of human genetics 20120412 5
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 ...[more]