Abstract
Ciliopathies is an emerging class of genetic disorders due to altered cilia assembly, maintenance or function. Syndromic ciliopathies affecting bone development have been classified as skeletal ciliopathies. Mutations in genes encoding components of the intraflagellar transport (IFT) complex A, that drives retrograde ciliary transport, are a major cause of skeletal ciliopathies. Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure and early-onset severe retinal dystrophy.
Highlights
Ciliopathies is an emerging class of genetic disorders due to altered cilia assembly, maintenance or function
Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Through ciliome re-sequencing combined to Sanger sequencing, we identified IFT140 mutations in seven Mainzer-Saldino syndrome (MSS) families
Summary
I Perrault1*, S Saunier, S Hanein, E Filhol, A Bizet, F Collins, M Salih, E Silva, V Baudouin, M Oud, N Shannon, M Le Merrer, C Pietrement, P Beales, H Arts, A Munnich, J Kaplan, C Antignac, V Cormier Daire, JM Rozet. From First International Cilia in Development and Disease Scientific Conference (2012) London, UK. 16-18 May 2012
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