| Literature DB >> 16682970 |
Enza Maria Valente1, Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al-Gazali, Elisa Fazzi, Sabrina Signorini, Carrie M Louie, Emanuele Bellacchio, Enrico Bertini, Bruno Dallapiccola, Joseph G Gleeson.
Abstract
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 populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies.Entities:
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Year: 2006 PMID： 16682970 DOI： 10.1038/ng1805
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330