Valente Enza Maria, Salpietro Damiano Carmelo, Brancati Francesco, Bertini Enrico, Galluccio Tiziana, Tortorella Gaetano, Briuglia Silvana, Dallapiccola Bruno
IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy.
Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7.
Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth sign." The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus "CORS2." The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes.
小脑-眼-肾综合征（CORSs）和Joubert综合征（JS）是临床和遗传异质性的常染色体隐性综合征，它们在脑部轴位图像上有一个类似磨牙的复杂神经放射学畸形，这种情况被称为“影像学上的磨牙”（MTI）或“磨牙征”。目前关于这些综合征的文献很复杂，其表型重叠且不完整，这使得为遗传目的选择临床同质性病例变得复杂。到目前为止，仅在两个患有JS的家族中定位了一个位点（9q34上的JBTS1）。在此，我们描述了一个患有JS和肾单位肾痨的近亲大家族，代表了一种新的小脑-肾表型。我们已将这种情况定位到11号染色体的着丝粒周围区域，并将该位点命名为“CORS2”。对于所有与JS、CORSs以及具有MTI的相关表型相关的位点，建议使用首字母缩写词“CORS”，因为这种神经放射学征象似乎是这些临床异质性综合征的统一特征。
