Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/121999
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dc.contributor.authorShoubridge, C.en
dc.contributor.authorHarvey, R.en
dc.contributor.authorDudding-Byth, T.en
dc.date.issued2019en
dc.identifier.citationHuman Mutation, 2019; 40(1):5-24en
dc.identifier.issn1059-7794en
dc.identifier.issn1098-1004en
dc.identifier.urihttp://hdl.handle.net/2440/121999-
dc.description.abstractThe IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal feature. Here, we review the increasing number of reported families and isolated cases have been reported with a variety of different pathogenic variants. The spectrum of clinical features is expanding with early-onset seizures as a frequent comorbidity in both affected male and female patients. There is a growing number of female patients with de novo loss-of-function variants in IQSEC2 have a more severe phenotype than the heterozygous state would predict, particularly if IQSEC2 is thought to escape X-inactivation. Interestingly, these findings highlight that the classical understanding of X-linked inheritance does not readily explain the emergence of these affected females, warranting further investigations into the underlying mechanisms.en
dc.description.statementofresponsibilityCheryl Shoubridge, Robert J. Harvey, Tracy Dudding‐Bythen
dc.language.isoenen
dc.publisherWiley Online Libraryen
dc.rights© 2018 Wiley Periodicals, Inc.en
dc.subjectIQSEC2; affected females; escape X-inactivation; intellectual disability; seizuresen
dc.titleIQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsyen
dc.typeJournal articleen
dc.identifier.rmid0030100494en
dc.identifier.doi10.1002/humu.23670en
dc.identifier.pubid443609-
pubs.library.collectionGenetics publicationsen
pubs.library.teamDS10en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidShoubridge, C. [0000-0002-0157-3084]en
Appears in Collections:Genetics publications

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