title: Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
abstract: 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.
authors.affiliation: INSERM U781 & Department of Genetics, Paris Descartes University, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Perrault
authors.forename: Sophie
authors.initials: S
authors.lastname: Saunier
authors.forename: Sylvain
authors.initials: S
authors.lastname: Hanein
authors.forename: Emilie
authors.initials: E
authors.lastname: Filhol
authors.forename: Albane A
authors.initials: AA
authors.lastname: Bizet
authors.forename: Felicity
authors.initials: F
authors.lastname: Collins
authors.forename: Mustafa A M
authors.initials: MA
authors.lastname: Salih
authors.forename: Sylvie
authors.initials: S
authors.lastname: Gerber
authors.forename: Nathalie
authors.initials: N
authors.lastname: Delphin
authors.forename: Karine
authors.initials: K
authors.lastname: Bigot
authors.forename: Christophe
authors.initials: C
authors.lastname: Orssaud
authors.forename: Eduardo
authors.initials: E
authors.lastname: Silva
authors.forename: Véronique
authors.initials: V
authors.lastname: Baudouin
authors.forename: Machteld M
authors.initials: MM
authors.lastname: Oud
authors.forename: Nora
authors.initials: N
authors.lastname: Shannon
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.forename: Christine
authors.initials: C
authors.lastname: Pietrement
authors.forename: Jamal
authors.initials: J
authors.lastname: Goumid
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Christine
authors.initials: C
authors.lastname: Bole-Feysot
authors.forename: Patrick
authors.initials: P
authors.lastname: Nitschke
authors.forename: Mohammed
authors.initials: M
authors.lastname: Zahrate
authors.forename: Philip
authors.initials: P
authors.lastname: Beales
authors.forename: Heleen H
authors.initials: HH
authors.lastname: Arts
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
mesh_terms: D000293:Adolescent; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D021381:Protein Transport / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D002352:Carrier Proteins