CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18.


Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Loken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Antigens, Neoplasm / genetics*
  • Brain / abnormalities*
  • Cell Cycle Proteins
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Female
  • Humans
  • Kidney Diseases / diagnosis
  • Kidney Diseases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Molar / abnormalities*
  • Mutation
  • Neoplasm Proteins / genetics*
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / genetics*
  • Phenotype
  • Syndrome


  • Antigens, Neoplasm
  • Cell Cycle Proteins
  • Cep290 protein, human
  • Cytoskeletal Proteins
  • Neoplasm Proteins