ArticleJournal of medical genetics2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 64 citations in OpenAlex.
- A 350 kbGenes · 2026Article
- Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.Frontiers in medicine · 2026Article
- Restoration of NEXMIF expression rescues abnormalities in gene transcription, neuron maturation and autistic-like behaviors in Nexmif knockout mice.Translational psychiatry · 2025Article
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- Gonadal mosaicism and paradoxical phenotype inJournal of genetics · 2025Article
- NEXMIF overexpression is associated with autism-like behaviors and alterations in dendritic arborization and spine formation in mice.Frontiers in neuroscience · 2025Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.Nature neuroscience · 2024Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.medRxiv : the preprint server for health sciences · 2024Article
- NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.Actas espanolas de psiquiatria · 2024Article
- HeterozygousHeliyon · 2024Article
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- The autism spectrum disorder risk geneFrontiers in neuroscience · 2023Article
- A medium-weight deep convolutional neural network-based approach for onset epileptic seizures classification in EEG signals.Brain and behavior · 2022Article
- Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome.Trends in genetics : TIG · 2022Review
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- Nexmifa Regulates Axon Morphogenesis in Motor Neurons in Zebrafish.Frontiers in molecular neuroscience · 2022Article
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.American journal of human genetics · 2021Article
- Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.International journal of molecular sciences · 2021Review
- NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
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Authors and funding
33 authors at 17 institutions in 9 countries.
Funding
Abstract
backgroundMutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy.
methodsReported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible.
resultsAll mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles.
conclusionsHeterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.
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