PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

By D. Parry, L. Tamayo-Orrego, P. Carroll, Joseph A. Marsh, Philip Greene, O. Murina, C. Uggenti, A. Leitch, R. Káposzta, Gabriella Merô and 9 more. 2020

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In this study, Parry et al. report PRIM1, encoding the catalytic subunit of DNA primase, as a novel disease gene. Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals and phenotypic features distinct from those previously reported with DNA polymerase genes were evident, highlighting differing developmental requirements for this core replisome component.