Article
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
European journal of human genetics : EJHG - 1 May 2015
Thomas Sophie, Cantagrel Vincent, Mariani Laura, Serre Valérie, Lee Ji-Eun, Elkhartoufi Nadia, de Lonlay Pascale, Desguerre Isabelle, Munnich Arnold, Boddaert Nathalie, Lyonnet Stanislas, Vekemans Michel, Lisgo Steven N, Caspary Tamara, Gleeson Joseph, Attié-Bitach Tania
Abstract excerpt
Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase, ARL13B. ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar vermis hypoplasia, and that can also include ocular abnormalities, renal cysts, liver fibrosis or polydactyly. These...
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