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Type: Journal article
Title: A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
Author: Huang, L.
Poke, G.
Gecz, J.
Gibson, K.
Citation: American Journal of Medical Genetics Part A, 2012; 2012(10):2511-2518
Publisher: Wiley
Issue Date: 2012
ISSN: 1552-4825
Statement of
Lingli Huang, Gemma Poke, Jozef Gecz and Kate Gibson
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.
Keywords: Nephrogenic diabetes insipidus; AVPR2; ARHGAP4; contiguous gene deletion; Xq28; intellectual disability
Rights: Copyright © 2012 Wiley Periodicals, Inc.
DOI: 10.1002/ajmg.a.35591
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Paediatrics publications

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