ArticleHuman genetics2012
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- The neurodevelopmental spectrum of CASK-related disorder.Journal of neurodevelopmental disorders · 2025Pooled it
- Article
- Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.Molecular neurobiology · 2025Article
- Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.Neural development · 2023Article
- Diverse Clinical Phenotypes ofGenes · 2023Review
- A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.BMC medical genomics · 2022Article
- A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Italian journal of pediatrics · 2022Article
- Case report: A novelFrontiers in genetics · 2022Article
- Case Report: Identification of a novelFrontiers in genetics · 2022Article
- A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.Experimental & molecular medicine · 2021Article
- New VOUS inMaedica · 2021Article
- Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.Molecular genetics & genomic medicine · 2020Article
- Cell-Type-Specific Proteogenomic Signal Diffusion for Integrating Multi-Omics Data Predicts Novel Schizophrenia Risk Genes.Patterns (New York, N.Y.) · 2020Article
- Genomic Analysis of Korean Patient With Microcephaly.Frontiers in genetics · 2020Article
- Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.Molecular genetics & genomic medicine · 2018Article
- A novelIntractable & rare diseases research · 2017Article
- Article
- The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders.Neural plasticity · 2016Review
- Phenotypic and molecular insights into CASK-related disorders in males.Orphanet journal of rare diseases · 2015Article
- Clinical impacts of genomic copy number gains at Xq28.Human genome variation · 2014Review
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The CASK gene encoding a member of the membrane-associated guanylate kinase protein family is highly expressed in the mammalian nervous system of both adults and fetuses, playing several roles in neural development and synaptic function. Recently, CASK aberrations caused by both mutations and deletions have been reported to cause severe mental retardation (MR), microcephaly and disproportionate pontine and cerebellar hypoplasia (MICPCH) in females. Here, mutations and copy numbers of CASK were examined in ten females with MR and MICPCH, and the following changes were detected: nonsense mutations in three cases, a 2-bp deletion in one case, mutations at exon-intron junctions in two cases, heterozygous deletions encompassing CASK in two cases and interstitial duplications in two cases. Except for the heterozygous deletions, each change including the intragenic duplications potentially caused an aberrant transcript, resulting in CASK null mutations. The results provide novel mutations and copy number aberrations of CASK, causing MR with MICPCH, and also demonstrate the similarity of the phenotypes of MR with MICPCH regardless of the CASK mutation.
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