It is only through the combination of exhaustive sequencing data, linkage/linkage disequilibrium mapping and histopathological examination that we were able to provide supporting evidence that the non-synonymous mutation at position 49,878,773 bp (rs800397662) in PNPLA8 is the only remaining and most likely candidate causal mutation for Weaver syndrome. The gene discussed is PNPLA8; the disease is Weaver syndrome.