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Article

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.

Genes - 20 Aug 2023

Mori Takuma, Zhou Mengyun, Tabuchi Katsuhiko

Abstract excerpt

CASK-related disorders are a form of rare X-linked neurological diseases and most of the patients are females. They are characterized by several symptoms, including microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy, congenital nystagmus, and neurodevelopmental disorders. Whole-genome sequencing has identified various mutations, including nonsense and missense mutations, from patients with...

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Identifiers

PMID: 37628707
DOI: 10.3390/genes14081656
PMCID: PMC10454856

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Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.PMID 37628707Read ↗

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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 ↗

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.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 ↗

Novel CASK mutations in cases with syndromic microcephaly.Semantic proximity Read ↗

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

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

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.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 ↗

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: A Case Report and Literature ReviewSemantic 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 ↗

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