Article
Mutations in CSPP1 lead to classical Joubert syndrome.
American journal of human genetics - 2 Jan 2014
Akizu Naiara, Silhavy Jennifer L, Rosti Rasim Ozgur, Scott Eric, Fenstermaker Ali G, Schroth Jana, Zaki Maha S, Sanchez Henry, Gupta Neerja, Kabra Madhulika, Kara Majdi, Ben-Omran Tawfeg, Rosti Basak, Guemez-Gamboa Alicia, Spencer Emily, Pan Roger, Cai Na, Abdellateef Mostafa, Gabriel Stacey, Halbritter Jan, Hildebrandt Friedhelm, van Bokhoven Hans, Gunel Murat, Gleeson Joseph G
Abstract excerpt
Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six individuals affected by classical JSRDs. CSPP1 encodes a protein...
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