Article
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nature genetics - 1 Jun 2006
Valente Enza Maria, Silhavy Jennifer L, Brancati Francesco, Barrano Giuseppe, Krishnaswami Suguna Rani, Castori Marco, Lancaster Madeline A, Boltshauser Eugen, Boccone Loredana, Al-Gazali Lihadh, Fazzi Elisa, Signorini Sabrina, Louie Carrie M, Bellacchio Emanuele, Bertini Enrico, Dallapiccola Bruno, Gleeson Joseph G
Abstract excerpt
Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations. CEP290 expression was detected mostly in proliferating cerebellar granule neuron...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.