Interactome analysis of FAM50A via affinity purification coupled to mass spectrometry

FAM50A missense variants are present in Armfield XLID syndrome patients. Zebrafish lacking fam50a display related phenotypes and show dysregulation of the transcriptome, increased spliceosome mRNAs and a preponderance of 3’ alternative splicing events, suggesting a role for Fam50a in the spliceosome C complex. Fam50A protein-protein interaction studies show that in 293T cells FAM50A interacts with spliceosome components. In sum, aberrant mRNA processing caused by FAM50A mutation underpins Armfield XLID syndrome.