Tegay, D. H., Lane, A. H., Roohi, J., Hatchwell, E. (March 2007) Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. American Journal of Medical Genetics Part A, 143A (6). pp. 594-598. ISSN 1552-4825
Abstract
X-linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene (LICAM at Xq28. Central diabetes insipidus (CDI) can arise as a consequence of resultant hypothalamic dysfunction from hydrocephalus and must be distinguished from nephrogenic diabetes insipidus (NDI) by exogenous vasopressin response. Causes of NDI are heterogeneous and include mutation or deletion of the arginine vasopressin receptor 2 gene (AVPR2), which is located similar to 29 kb telomeric to L 7 CAM. We identified a patient with both HSAS and NDI where DNA Sequencing failure suggested the possibility of a contiguous gene deletion. A 32.7 kb deletion mapping front L1CAM intron1 to AVPR2 exon2 was confirmed. A 90 bp junctional insertion fragment sharing short direct repeat homology with flanking sequences was identified. To our knowledge this is the first reported case of an Xq28 microdeletion involving both L1CAM and AVPR2, defining a new contiguous gene syndrome comprised of HSAS and NDI. Contiguous gene deletion should be considered as a mechanism for all patients presenting with hydrocephalus and NDL. (c) 2007 Wiley-Liss, Inc.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | contiguous gene deletion microdeletion AVPR2 L1CAM nephrogenic diabetes insipidus hydrocephalus X-chromosome SPASTIC PARAPLEGIA SPG1 MASA SYNDROME RECEPTOR GENE MUTATIONS DISEASE IDENTIFICATION REARRANGEMENTS PHENOTYPE SECONDARY FAMILIES |
| Subjects: | bioinformatics > genomics and proteomics > design > amino acid design diseases & disorders > nutritional and metabolic diseases > diabetes bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations |
| CSHL Authors: | |
| Communities: | CSHL labs > Hatchwell lab |
| Depositing User: | CSHL Librarian |
| Date: | March 2007 |
| Date Deposited: | 03 Nov 2011 14:27 |
| Last Modified: | 10 Apr 2018 19:59 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/23154 |
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