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Article

Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes.

Gene - 15 May 2023

Castro Victoria L, Paz David, Virrueta Valeria, Estevao Igor L, Grajeda Brian I, Ellis Cameron C, Quintana Anita M

Abstract excerpt

Mutations in the HCFC1 transcriptional co-factor protein are the cause of cblX syndrome and X-linked intellectual disability (XLID). cblX is the more severe disorder associated with intractable epilepsy, abnormal cobalamin metabolism, facial dysmorphia, cortical gyral malformations, and intellectual disability. In vitro, murine Hcfc1 regulates neural precursor (NPCs) proliferation and number, which has been...

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Identifiers

PMID: 36804358
DOI: 10.1016/j.gene.2023.147290
PMCID: PMC11373874

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