编码一种中心体蛋白的CEP290基因发生突变会导致多种类型的乔伯综合征。

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

作者信息

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

机构信息

Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy.

出版信息

Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7.

DOI:10.1038/ng1805

PMID:16682970

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.

摘要

乔伯特综合征相关疾病（JSRD）是一组具有小脑蚓部发育不全和一种称为“磨牙征”的特殊脑干畸形的神经放射学特征的综合征。我们在五个具有不同神经、视网膜和肾脏表现的家系中鉴定出了CEP290基因的突变。CEP290表达主要在增殖的小脑颗粒神经元群体中检测到，并显示出中心体和纤毛定位，将JSRD与其他人类纤毛病联系起来。