Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/74069
Citations
Scopus Web of Science® Altmetric
?
?
Full metadata record
DC FieldValueLanguage
dc.contributor.authorHuang, L.en
dc.contributor.authorPoke, G.en
dc.contributor.authorGecz, J.en
dc.contributor.authorGibson, K.en
dc.date.issued2012en
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2012; 2012(10):2511-2518en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/74069-
dc.description.abstractThe 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.en
dc.description.statementofresponsibilityLingli Huang, Gemma Poke, Jozef Gecz and Kate Gibsonen
dc.language.isoenen
dc.publisherWileyen
dc.rightsCopyright © 2012 Wiley Periodicals, Inc.en
dc.subjectNephrogenic diabetes insipidus; AVPR2; ARHGAP4; contiguous gene deletion; Xq28; intellectual disabilityen
dc.titleA novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disabilityen
dc.typeJournal articleen
dc.identifier.rmid0020122164en
dc.identifier.doi10.1002/ajmg.a.35591en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1008077en
dc.identifier.pubid23047-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.