Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
EM Valente, JL Silhavy, F Brancati, G Barrano… - Nature …, 2006 - nature.com
Nature genetics, 2006•nature.com
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.
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.
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.
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