Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/121999
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Shoubridge, C. | - |
dc.contributor.author | Harvey, R.J. | - |
dc.contributor.author | Dudding-Byth, T. | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Human Mutation, 2019; 40(1):5-24 | - |
dc.identifier.issn | 1059-7794 | - |
dc.identifier.issn | 1098-1004 | - |
dc.identifier.uri | http://hdl.handle.net/2440/121999 | - |
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. | - |
dc.description.statementofresponsibility | Cheryl Shoubridge, Robert J. Harvey, Tracy Dudding‐Byth | - |
dc.language.iso | en | - |
dc.publisher | Wiley Online Library | - |
dc.rights | © 2018 Wiley Periodicals, Inc. | - |
dc.source.uri | http://dx.doi.org/10.1002/humu.23670 | - |
dc.subject | IQSEC2 | - |
dc.subject | affected females | - |
dc.subject | escape X-inactivation | - |
dc.subject | intellectual disability | - |
dc.subject | seizures | - |
dc.title | IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1002/humu.23670 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Shoubridge, C. [0000-0002-0157-3084] | - |
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.