Keeler Lesley C, Marsh Sarah E, Leeflang Esther P, Woods Christopher G, Sztriha László, Al-Gazali Lihadh, Gururaj Aithala, Gleeson Joseph G
Neurogenetics Laboratory, Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, CA, USA.
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.
乔伯特综合征（JS）是一种常染色体隐性遗传性发育性脑部疾病，其特征为小脑蚓部发育不全/发育异常，以及共济失调、肌张力减退、眼球运动失用和新生儿呼吸调节异常。一种包含视网膜发育异常和多囊性发育不良肾的JS类型已与其他JS类型区分开来，被称为“B型JS”或“小脑-眼-肾综合征”（CORS），但这种疾病的遗传基础尚不清楚。在此，我们描述了三个表现出CORS的近亲家庭。连锁分析在11号染色体p12-q13.3区域确定了一个新的基因座，在标记D11S1915处的最大两点连锁对数得分Z=5.2。因此，JS的小脑-眼-肾类型是一种与其他地方描述的乔伯特综合征1（JBTS1）基因座不同的独特遗传实体，在JBTS1基因座中视网膜或肾脏受累程度极小。我们建议将这个新基因座命名为“CORS2”。
