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Gene Review: 

CORS2  -  cerebello-oculo-renal syndrome 2

Homo sapiens

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High impact information on CORS2

  • Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3 [1].
  • Conversely, JBTS2 is associated with multiorgan involvement of kidney, retina, and liver, in addition to the central nervous system features, and results in extreme phenotypic variability [2].
  • Genotype-phenotype studies indicate that, unlike CORS2, JBTS3 appears not to be associated with renal dysfunction [3].

References

  1. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Keeler, L.C., Marsh, S.E., Leeflang, E.P., Woods, C.G., Sztriha, L., Al-Gazali, L., Gururaj, A., Gleeson, J.G. Am. J. Hum. Genet. (2003) [Pubmed]
  2. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Valente, E.M., Marsh, S.E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C.G., Boltshauser, E., Al-Tawari, A.A., Salpietro, C.D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J.G. Ann. Neurol. (2005) [Pubmed]
  3. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Lagier-Tourenne, C., Boltshauser, E., Breivik, N., Gribaa, M., Bétard, C., Barbot, C., Koenig, M. J. Med. Genet. (2004) [Pubmed]
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