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|Title:||IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy|
|Citation:||Human Mutation, 2019; 40(1):5-24|
|Publisher:||Wiley Online Library|
|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.|
|Appears in Collections:||Genetics publications|
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