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| Intellectual disability v11.45 | PCBP1 |
Aleš Maver gene: PCBP1 was added gene: PCBP1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCBP1 were set to 42749777 Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder with intellectual disability and autism spectrum disorder Penetrance for gene: PCBP1 were set to unknown Review for gene: PCBP1 was set to AMBER Added comment: Deb et al. (2026) identified 16 distinct de novo PCBP1 variants reported as pathogenic in 17 affected individuals from 16 unrelated families. All individuals had intellectual disability, with autism spectrum disorder a prominent feature. Functional studies in primary mouse hippocampal neurons demonstrated impaired dendritic arborization associated with PCBP1 variants. RNA sequencing of patient-derived T cells identified a distinctive splicing signature with increased exon skipping, supporting disruption of PCBP1-mediated splicing regulation. The human genetic and functional evidence supports a monoallelic PCBP1-related neurodevelopmental disorder. Sources: Literature |
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