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We extend here the phenotypic range associated with MCM3AP variants, by describing a severely hypotonic child and a sibling pair with a progressive encephalopathic syndrome. In addition, our analysis of skin fibroblasts from affected individuals from seven unrelated families indicates that disease variants result in depletion of GANP except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants. Patient fibroblasts showed transcriptome alterations that suggested intron content-dependent regulation of gene expression. For example, all differentially expressed intronless genes were downregulated, including ATXN7L3B, which couples mRNA export to transcription activation by association with the TREX-2 and SAGA complexes. Our results provide insight into the molecular basis behind genotype-phenotype correlations in MCM3AP-associated disease and suggest mechanisms by which GANP defects might alter RNA metabolism.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa051","type":"journal-article","created":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T20:11:04Z","timestamp":1584648664000},"page":"1426-1439","source":"Crossref","is-referenced-by-count":10,"title":["Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content"],"prefix":"10.1093","volume":"29","author":[{"given":"Rosa","family":"Woldegebriel","sequence":"first","affiliation":[{"name":"Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, 00290 Helsinki, Finland"},{"name":"Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, 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