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September 10, 2024

[Genetic and clinical analysis of two children with microcephaly and mental retardation due to a frameshifting variant of CASK gene].

Sujuan Liu Yingying Wang Houyan Huang Ping Xu Ye Jiang Taocheng Zhou

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Abstract

To explore the clinical and genetic characteristics of two children with mental retardation and microcephaly.

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Liu et al. (2024) studied this question.

synapsesocial.com/papers/68e58ed3b6db64358752a240 https://doi.org/10.3760/cma.j.cn511374-20230620-00376

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Dissecting <scp><i>CASK</i></scp>: Novel splice site variant associated with male <scp>MICPCH</scp> phenotype2024 · 1 citations
2The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardationOriginal Research · 2008 · 48 citations
3The neurodevelopmental spectrum of CASK-related disorder2024
4<scp><i>CASK</i></scp> pathogenic variant which expands the clinical spectrum for <scp>MICPCH</scp> syndrome in an adult patient2024
5Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies2025

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders2025
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein2024
Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants2025

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