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|dc.identifier.citation||Human Mutation, 2019; 40(1):5-24||en|
|dc.description.abstract||The 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.statementofresponsibility||Cheryl Shoubridge, Robert J. Harvey, Tracy Dudding‐Byth||en|
|dc.publisher||Wiley Online Library||en|
|dc.rights||© 2018 Wiley Periodicals, Inc.||en|
|dc.subject||IQSEC2; affected females; escape X-inactivation; intellectual disability; seizures||en|
|dc.title||IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy||en|
|dc.identifier.orcid||Shoubridge, C. [0000-0002-0157-3084]||en|
|Appears in Collections:||Genetics publications|
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