Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/121999
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Type: Journal article
Title: IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy
Author: Shoubridge, C.
Harvey, R.
Dudding-Byth, T.
Citation: Human Mutation, 2019; 40(1):5-24
Publisher: Wiley Online Library
Issue Date: 2019
ISSN: 1059-7794
1098-1004
Statement of
Responsibility: 
Cheryl Shoubridge, Robert J. Harvey, Tracy Dudding‐Byth
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.
Keywords: IQSEC2; affected females; escape X-inactivation; intellectual disability; seizures
Rights: © 2018 Wiley Periodicals, Inc.
RMID: 0030100494
DOI: 10.1002/humu.23670
Appears in Collections:Genetics publications

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