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dc.contributor.authorShoubridge, C.en
dc.contributor.authorHarvey, R.en
dc.contributor.authorDudding-Byth, T.en
dc.identifier.citationHuman Mutation, 2019; 40(1):5-24en
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.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
pubs.library.collectionGenetics publicationsen
dc.identifier.orcidShoubridge, C. [0000-0002-0157-3084]en
Appears in Collections:Genetics publications

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