title: Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
abstract: 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.
authors.affiliation: Neurogenetics Laboratory, Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, CA, USA.
authors.forename: Lesley C
authors.initials: LC
authors.lastname: Keeler
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Marsh
authors.forename: Esther P
authors.initials: EP
authors.lastname: Leeflang
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Woods
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Aithala
authors.initials: A
authors.lastname: Gururaj
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome