Article
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Human mutation - 1 Jan 2014
Thomas Sophie, Wright Kevin J, Le Corre Stéphanie, Micalizzi Alessia, Romani Marta, Abhyankar Avinash, Saada Julien, Perrault Isabelle, Amiel Jeanne, Litzler Julie, Filhol Emilie, Elkhartoufi Nadia, Kwong Mandy, Casanova Jean-Laurent, Boddaert Nathalie, Baehr Wolfgang, Lyonnet Stanislas, Munnich Arnold, Burglen Lydie, Chassaing Nicolas, Encha-Ravazi Ferechté, Vekemans Michel, Gleeson Joseph G, Valente Enza Maria, Jackson Peter K, Drummond Iain A, Saunier Sophie, Attié-Bitach Tania
Abstract excerpt
Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a...
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