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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Valente, Enza Maria Salpietro, Damiano Carmelo Tortorella, Gaetano Brancati, Francesco Bertini, Enrico Galluccio, Tiziana Briuglia, Silvana Dallapiccola, Bruno |
| Description | Country affiliation: Italy Author Affiliation: Valente EM ( IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy. e.valente@css-mendel.it) |
| Abstract | 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. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 3 |
| Volume Number | 73 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-09-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Abnormalities, Multiple Genetics Cerebellum Abnormalities Chromosomes, Human, Pair 11 Eye Abnormalities Kidney Diseases, Cystic Classification Pathology Adolescent Magnetic Resonance Imaging Pedigree Syndrome Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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