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A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
Am J Med Genet A. 2012 Oct; 158A(10):2511-8.AJ

Abstract

The clinical features of loss of ARHGAP4 function remain unclear despite several reports of different patterns of deletions inactivating different functional regions of the protein. The protein encoded by ARHGAP4 is thought to function as a Rho GTPase activating protein. Characterization of the genetic defect causing X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers revealed a novel contiguous deletion of 17,905 bp encompassing the entire AVPR2 gene and extending into intron 7 of the ARHGAP4 gene. Examination of their mother showed that she was a carrier of this deletion. An attempt was made to distinguish the putative clinical signs of an ARHGAP4 deletion from the well-defined phenotype of X-linked NDI caused by an AVPR2 gene deletion. By reviewing all characterized deletions encompassing ARHGAP4, we reconsider the potential role of ARHGAP4 in cognition.

Authors+Show Affiliations

Institute of Reproductive and Stem Cell Engineering, Central South University, China.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22965914

Citation

Huang, Lingli, et al. "A Novel Contiguous Gene Deletion of AVPR2 and ARHGAP4 Genes in Male Dizygotic Twins With Nephrogenic Diabetes Insipidus and Intellectual Disability." American Journal of Medical Genetics. Part A, vol. 158A, no. 10, 2012, pp. 2511-8.
Huang L, Poke G, Gecz J, et al. A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. Am J Med Genet A. 2012;158A(10):2511-8.
Huang, L., Poke, G., Gecz, J., & Gibson, K. (2012). A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. American Journal of Medical Genetics. Part A, 158A(10), 2511-8. https://doi.org/10.1002/ajmg.a.35591
Huang L, et al. A Novel Contiguous Gene Deletion of AVPR2 and ARHGAP4 Genes in Male Dizygotic Twins With Nephrogenic Diabetes Insipidus and Intellectual Disability. Am J Med Genet A. 2012;158A(10):2511-8. PubMed PMID: 22965914.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability. AU - Huang,Lingli, AU - Poke,Gemma, AU - Gecz,Jozef, AU - Gibson,Kate, Y1 - 2012/09/10/ PY - 2012/02/05/received PY - 2012/06/28/accepted PY - 2012/9/12/entrez PY - 2012/9/12/pubmed PY - 2013/2/21/medline SP - 2511 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 158A IS - 10 N2 - The clinical features of loss of ARHGAP4 function remain unclear despite several reports of different patterns of deletions inactivating different functional regions of the protein. The protein encoded by ARHGAP4 is thought to function as a Rho GTPase activating protein. Characterization of the genetic defect causing X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers revealed a novel contiguous deletion of 17,905 bp encompassing the entire AVPR2 gene and extending into intron 7 of the ARHGAP4 gene. Examination of their mother showed that she was a carrier of this deletion. An attempt was made to distinguish the putative clinical signs of an ARHGAP4 deletion from the well-defined phenotype of X-linked NDI caused by an AVPR2 gene deletion. By reviewing all characterized deletions encompassing ARHGAP4, we reconsider the potential role of ARHGAP4 in cognition. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/22965914/A_novel_contiguous_gene_deletion_of_AVPR2_and_ARHGAP4_genes_in_male_dizygotic_twins_with_nephrogenic_diabetes_insipidus_and_intellectual_disability_ L2 - https://doi.org/10.1002/ajmg.a.35591 DB - PRIME DP - Unbound Medicine ER -