ArticleJournal of medical genetics2004
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 90 citations in OpenAlex.
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- 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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- NEXMIF overexpression is associated with autism-like behaviors and alterations in dendritic arborization and spine formation in mice.Frontiers in neuroscience · 2025Article
- NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.Actas espanolas de psiquiatria · 2024Article
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- HeterozygousHeliyon · 2024Article
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- Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations.Epigenetics & chromatin · 2023Article
- Purinergic signaling during Marek's disease in chickens.Scientific reports · 2023Article
- The autism spectrum disorder risk geneFrontiers in neuroscience · 2023Article
- NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.American journal of medical genetics. Part A · 2022Article
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- Nexmifa Regulates Axon Morphogenesis in Motor Neurons in Zebrafish.Frontiers in molecular neuroscience · 2022Article
- Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach?Current neurology and neuroscience reports · 2021Review
- 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
- Cortical and Subcortical Network Dysfunction in a Female Patient WithFrontiers in neurology · 2021Article
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Authors and funding
9 authors at 4 institutions in 4 countries.
Funding
Abstract
backgroundMental retardation (MR) affects 2-3% of the human population and some of these cases are genetically determined. Although several genes responsible for MR have been identified, many cases have still not been explained.
methodsWe have identified a pericentric inversion of the X chromosome inv(X)(p22.3;q13.2) segregating in a family where two male carriers have severe MR while female carriers are not affected.
resultsThe molecular characterisation of this inversion led us to identify two new genes which are disrupted by the breakpoints: KIAA2022 in Xq13.2 and P2RY8 in Xp22.3. These genes were not previously fully characterised in humans. KIAA2022 encodes a protein which lacks significant homology to any other known protein and is highly expressed in the brain. P2RY8 is a member of the purine nucleotide G-protein coupled receptor gene family. It is located in the pseudo-autosomal region of the X chromosome and is not expressed in brain.
conclusionsBecause the haploinsufficiency of P2RY8 in carrier mothers does not have a phenotypic consequence, we propose that the severe MR of the affected males in this family is due to the absence of the KIAA2022 gene product. However, screening 20 probands from X linked MR families did not reveal mutations in KIAA2022. Nonetheless, the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.
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