Genetics

This post covers van Rensburg and colleagues' 2019 report in Molecular Genetics and Metabolism Reports, a whole exome sequencing study of two boys with paediatric relapsing-remitting MS and severe iron deficiency, followed for a decade. It sets out the variants found in TMPRSS6, TF, CUBN, SLC25A37, CD163 and COQ3, explains why screening two iron-deficient children through an iron-gene pipeline limits what the gene list can show, covers the absence of HLA-DRB1*15:01 in both children and the base rate that qualifies it, weighs what a decade without relapse can and cannot establish given a multi-nutrient uncontrolled intervention, and closes on the paper's stated limitations and its authors' patent and company disclosures.