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

Lesley C. Keeler, Sarah E. Marsh, Esther P. Leeflang, Christopher G. Woods, László Sztriha, Lihadh Al-Gazali, Aithala Gururaj, Joseph G. Gleeson

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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.

Original languageEnglish
Pages (from-to)656-662
Number of pages7
JournalAmerican Journal of Human Genetics
Volume73
Issue number3
DOIs
Publication statusPublished - Sep 1 2003

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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