Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

There was, for instance, a highly significant upregulation in the inclusion of a widely studied, 10 , 14 SRRM4 ‐dependent 9‐nucleotide microexon in the mRNA of AP1S2 (FDR = 7.94 × 10 −5 ; exon‐inclusion level difference = 0.16; rMATS‐turbo) (Fig. 3B ; Table S2 ), the gene associated with X‐linked Pettigrew syndrome (OMIM: 304340). 12 , 15 This abnormally spliced gene represented an important candidate contributor to the SRRM4 splicing mutation‐associated phenotype.

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