- Title
- IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy
- Creator
- Shoubridge, Cheryl; Harvey, Robert J.; Dudding-Byth, Tracy
- Relation
- Human Mutation Vol. 40, Issue 1, p. 5-24
- Publisher Link
- http://dx.doi.org/10.1002/humu.23670
- Publisher
- John Wiley & Sons
- Resource Type
- journal article
- Date
- 2019
- Description
- 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.
- Subject
- affected females; escape X-inactivation; intellectual disability; IQSEC2; seizures
- Identifier
- http://hdl.handle.net/1959.13/1507308
- Identifier
- uon:55998
- Identifier
- ISSN:1059-7794
- Language
- eng
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