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Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
. 2007 Mar 15; 143A(6):594-8.

Abstract

X-linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene (L1CAM) 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 approximately 29 kb telomeric to L1CAM. 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 from 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 NDI.

Authors+Show Affiliations

Stony Brook University Hospital, Stony Brook, New York, USA. david.tegay@stonybrook.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17318848

Citation

Tegay, David H., et al. "Contiguous Gene Deletion Involving L1CAM and AVPR2 Causes X-linked Hydrocephalus With Nephrogenic Diabetes Insipidus." American Journal of Medical Genetics. Part A, vol. 143A, no. 6, 2007, pp. 594-8.
Tegay DH, Lane AH, Roohi J, et al. Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. Am J Med Genet A. 2007;143A(6):594-8.
Tegay, D. H., Lane, A. H., Roohi, J., & Hatchwell, E. (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), 594-8.
Tegay DH, et al. Contiguous Gene Deletion Involving L1CAM and AVPR2 Causes X-linked Hydrocephalus With Nephrogenic Diabetes Insipidus. Am J Med Genet A. 2007 Mar 15;143A(6):594-8. PubMed PMID: 17318848.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. AU - Tegay,David H, AU - Lane,Andrew H, AU - Roohi,Jasmin, AU - Hatchwell,Eli, PY - 2007/2/24/pubmed PY - 2007/5/9/medline PY - 2007/2/24/entrez SP - 594 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 143A IS - 6 N2 - X-linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene (L1CAM) 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 approximately 29 kb telomeric to L1CAM. 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 from 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 NDI. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/17318848/Contiguous_gene_deletion_involving_L1CAM_and_AVPR2_causes_X_linked_hydrocephalus_with_nephrogenic_diabetes_insipidus_ L2 - https://doi.org/10.1002/ajmg.a.31536 DB - PRIME DP - Unbound Medicine ER -