Journal article
IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy
Human Mutation, Vol.40(1), pp.5-24
2019
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.
Details
- Title
- IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy
- Authors
- Cheryl Shoubridge (Corresponding Author) - University of AdelaideRobert J Harvey (Author) - University of the Sunshine Coast, Queensland, School of Health and Sport Sciences - LegacyTracy Dudding-Byth (Author) - University of Newcastle Australia
- Publication details
- Human Mutation, Vol.40(1), pp.5-24
- Publisher
- John Wiley & Sons Inc.
- Date published
- 2019
- DOI
- 10.1002/humu.23670
- ISSN
- 1059-7794
- Organisation Unit
- Centre for Bioinnovation; University of the Sunshine Coast, Queensland; School of Health and Behavioural Sciences - Legacy; School of Health and Sport Sciences - Legacy; School of Health
- Language
- English
- Record Identifier
- 99450854602621
- Output Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Web Of Science research areas
- Genetics & Heredity