Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3

Am J Hum Genet. 2003 Sep;73(3):656-62. doi: 10.1086/378206. Epub 2003 Aug 13.


Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either "JS type B" or "cerebello-oculo-renal syndrome" (CORS), but the genetic basis of this condition is unknown. Here, we describe three consanguineous families that display CORS. Linkage analysis defines a novel locus on chromosome 11p12-q13.3, with a maximum two-point LOD score of Z=5.2 at the marker D11S1915. Therefore, the cerebello-oculo-renal form of JS is a distinct genetic entity from the Joubert syndrome 1 (JBTS1) locus described elsewhere, in which there is minimal involvement of retina or kidney. We suggest the term "CORS2" for this new locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities*
  • Cerebellum / abnormalities*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Female
  • Genetic Linkage
  • Humans
  • Kidney Diseases, Cystic / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Retina / abnormalities*
  • Syndrome