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

Enza Maria Valente, 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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)623-625
Number of pages3
JournalNature Genetics
Volume38
Issue number6
DOIs
Publication statusPublished - Jun 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., Fazzi, E., Signorini, S., Louie, C. M., Bellacchio, E., Bertini, E., Dallapiccola, B., & Gleeson, J. G. (2006). Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics, 38(6), 623-625. https://doi.org/10.1038/ng1805