Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
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- 7 May 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 38 (6) , 623-625
- https://doi.org/10.1038/ng1805
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.Keywords
This publication has 14 references indexed in Scilit:
- Ciliary proteins and exencephalyNature Genetics, 2006
- Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?Nature Reviews Genetics, 2005
- Distinguishing the four genetic causes of jouberts syndrome–related disordersAnnals of Neurology, 2005
- Proteomic characterization of the human centrosome by protein correlation profilingNature, 2003
- Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromesAmerican Journal of Medical Genetics Part A, 2003
- Re-evaluating centrosome functionNature Reviews Molecular Cell Biology, 2001
- Molecular Cloning of a Tumor-Associated Antigen Recognized by Monoclonal Antibody 3H11Biochemical and Biophysical Research Communications, 2001
- "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging CorrelationJournal of Child Neurology, 1997
- Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar VermisNeuropediatrics, 1977
- Familial agenesis of the cerebellar vermisNeurology, 1969