Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/121999
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
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.J. 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. |
DOI: | 10.1002/humu.23670 |
Published version: | http://dx.doi.org/10.1002/humu.23670 |
Appears in Collections: | Aurora harvest 8 Genetics 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.