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Article

Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.

Clinical genetics - 1 Dec 2024

Silveira Karina C, Ambrose Anastasia, Athey Taryn, Taylor Sherryl, Mercimek-Andrews Saadet, Kannu Peter

Abstract excerpt

CASK (MIM#300172), encoding a calcium/calmodulin-dependent serine protein kinase, is crucial for synaptic transmission and gene regulation during neural development. Pathogenic variants of CASK are known to cause several neurodevelopmental disorders, including X-linked intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). This study introduces a novel, de novo synonymous CASK...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39212003
DOI: 10.1111/cge.14610

Genes

CASK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.PMID 39212003Read ↗

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.Semantic proximity Read ↗

Sex-specific genotype-phenotype landscape and prevalence of <i>CASK</i> -related disorderSemantic proximity Read ↗

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Semantic proximity Read ↗

A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.Semantic proximity Read ↗

A Novel Loss-of-function Pathogenic Missense Mutation in CASK Gene Causes Mental Retardation and Microcephaly with Pontine and Cerebellar HypoplasiaSemantic proximity Read ↗

Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.Semantic proximity Read ↗

Phenotypic and molecular insights into CASK-related disorders in males.Semantic proximity Read ↗

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.Semantic proximity Read ↗

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.Semantic proximity Read ↗

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Semantic proximity Read ↗

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.Semantic proximity Read ↗

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.Semantic proximity Read ↗

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