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Article

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

European journal of human genetics : EJHG - 1 Jul 2023

Priolo Manuela, Zara Erika, Radio Francesca Clementina, Ciolfi Andrea, Spadaro Francesca, Bellacchio Emanuele, Mancini Cecilia, Pantaleoni Francesca, Cordeddu Viviana, Chiriatti Luigi, Niceta Marcello, Africa Emilio, Mammì Corrado, Melis Daniela, Coppola Simona, Tartaglia Marco

Abstract excerpt

RAC1 is a member of the Rac/Rho GTPase subfamily within the RAS superfamily of small GTP-binding proteins, comprising 3 paralogs playing a critical role in actin cytoskeleton remodeling, cell migration, proliferation and differentiation. De novo missense variants in RAC1 are associated with a rare neurodevelopmental disorder (MRD48) characterized by DD/ID and brain abnormalities coupled with a wide range of...

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Identifiers

PMID: 37059841
DOI: 10.1038/s41431-023-01351-7
PMCID: PMC10326044

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