TY - JOUR
T1 - Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
AU - Keeler, Lesley C.
AU - Marsh, Sarah E.
AU - Leeflang, Esther P.
AU - Woods, Christopher G.
AU - Sztriha, László
AU - Al-Gazali, Lihadh
AU - Gururaj, Aithala
AU - Gleeson, Joseph G.
N1 - Funding Information:
The authors thank James L. Weber and the National Heart, Lung, and Blood Institute Mammalian Genotyping Service, for running the original genome scan, and the patients and their families, for participation. We thank Enza Maria Valente et al. for exchanging manuscripts prior to publication and for agreeing on the “CORS” nomenclature. This work was supported by a grant from the March of Dimes. L.C.K. is a member of the Genetics Training Program, and E.P.L. received funding from the Neuroplasticity of Aging Training Grant at the University of California San Diego.
PY - 2003/9/1
Y1 - 2003/9/1
N2 - 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.
AB - 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.
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U2 - 10.1086/378206
DO - 10.1086/378206
M3 - Article
C2 - 12917796
AN - SCOPUS:0042763544
SN - 0002-9297
VL - 73
SP - 656
EP - 662
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -