Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations | Zendy

Isabelle Perrault | Zendy; Sophie Saunier | Zendy; Sylvain Hanein | Zendy; Emilie Filhol | Zendy; Albane A. Bizet | Zendy; Felicity Collins | Zendy; Mustafa A. Salih | Zendy; S. Gerber | Zendy; Nathalie Delphin | Zendy; Karine Bigot | Zendy; Christophe Orssaud | Zendy; Eduardo Silva | Zendy; Véronique Baudouin | Zendy; Machteld M. Oud | Zendy; Nora Shan | Zendy; Martine Le Merrer | Zendy; Olivier Roche | Zendy; Christine Piètrement | Zendy; Jamal Goumid | Zendy; Clarisse Baumann | Zendy; Christine BôleFeysot | Zendy; Patrick Nitschké | Zendy; Mohammed Zahrate | Zendy; Philip L. Beales | Zendy; Heleen H. Arts | Zendy; Arnold Münnich | Zendy; Josseline Kaplan | Zendy; Corinne Antignac | Zendy; Valérie CormierDaire | Zendy; JeanMichel Rozet | Zendy

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Author(s) -

Isabelle Perrault,

Sophie Saunier,

Sylvain Hanein,

Emilie Filhol,

Albane A. Bizet,

Felicity Collins,

Mustafa A. Salih,

S. Gerber,

Nathalie Delphin,

Karine Bigot,

Christophe Orssaud,

Eduardo Silva,

Véronique Baudouin,

Machteld M. Oud,

Nora Shan,

Martine Le Merrer,

Olivier Roche,

Christine Piètrement,

Jamal Goumid,

Clarisse Baumann,

Christine BôleFeysot,

Patrick Nitschké,

Mohammed Zahrate,

Philip L. Beales,

Heleen H. Arts,

Arnold Münnich,

Josseline Kaplan,

Corinne Antignac,

Valérie CormierDaire,

JeanMichel Rozet

Publication year - 2012

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2012.03.006

Subject(s) - ciliopathy , political science , biology , genetics , gene , phenotype

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.

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