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Article

Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.

Journal of molecular medicine (Berlin, Germany) - 1 Nov 2024

Rackova Marketa, Mattera Rafael, Svaton Michael, Fencl Filip, Kanderova Veronika, Spicakova Karolina, Park Sang Yoon, Fabian Ondrej, Koblizek Miroslav, Fronkova Eva, Bonifacino Juan S, Skvarova Kramarzova Karolina

Abstract excerpt

MEDNIK syndrome is a rare autosomal recessive disease characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, and caused by variants in the adaptor-related protein complex 1 subunit sigma 1 (AP1S1) gene. This gene encodes the σ1A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking...

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Diarrhea
Genetic Predisposition to Disease
Intellectual Disability
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39269494
DOI: 10.1007/s00109-024-02482-0
PMCID: PMC11525306

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