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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Valente EM,Silhavy JL,Brancati F,Barrano G,Krishnaswami SR,Castori M,Lancaster MA,Boltshauser E,Boccone L,Al-Gazali L,Fazzi E,Signorini S,Louie CM,Bellacchio E,International Joubert Syndrome Related Disorders Study Group.,B

doi

10.1038/ng1805

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

623-5

issue

6

eissn

1061-4036

issn

1546-1718

pii

ng1805

journal_volume

38

pub_type

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