ArticleEuropean journal of human genetics : EJHG2010
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.Molecular biology reports · 2025Pooled it
- Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2016Trial
- Loss of Atp8a2 drives neurodegeneration through the dysregulation of spatiotemporal phosphatidylserine externalization in mature neurons.Cell death & disease · 2026Article
- Phospholipid flippases ATP8A1 and ATP8A2 regulate GABAiScience · 2026Article
- TDP-43 suppression of ATP8A2 cryptic splicing implicates phosphatidylserine-driven neuroinflammation in ALS/FTD.bioRxiv : the preprint server for biology · 2025Article
- Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.Molecular genetics & genomic medicine · 2025Article
- Substrates, regulation, cellular functions, and disease associations of P4-ATPases.Communications biology · 2025Review
- A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.Neurogenetics · 2024Article
- A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability ofmedRxiv : the preprint server for health sciences · 2024Article
- Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.NPJ genomic medicine · 2021Article
- Genome-wide association study for postweaning weight traits in Lori-Bakhtiari sheep.Tropical animal health and production · 2021Article
- A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.Journal of clinical laboratory analysis · 2020Article
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- ATP8A2-related disorders as recessive cerebellar ataxia.Journal of neurology · 2020Article
- Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.Cell death & disease · 2018Article
- Proteomic Analysis and Functional Characterization of P4-ATPase Phospholipid Flippases from Murine Tissues.Scientific reports · 2018Article
- Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.Orphanet journal of rare diseases · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation in a patient with severe mental retardation and major hypotonia. We found that the balanced translocation is molecularly balanced. The translocation breakpoint disrupts the coding sequence of a single gene, called ATP8A2. The ATP8A2 gene is not ubiquitously expressed, but it is highly expressed in the brain. In situ hybridization performed in mouse embryos at different stages of development with the mouse homologue confirms this observation. A total of 38 patients with a similar phenotype were screened for mutations in the ATP8A2 gene but no mutations were found. The balanced translocation identified in this patient disrupts a single candidate gene highly expressed in the brain. Although this chromosomal rearrangement could be the cause of the severe phenotype of the patient, we were not able to identify additional cases. Extensive screening in the mentally retarded population will be needed to determine if ATP8A2 haploinsufficiency or dysfunction causes a neurological phenotype in humans.
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