Spinal muscular atrophy caused by a novel <i>Alu</i>‐mediated deletion of exons 2a‐5 in <i>SMN1</i> undetectable with routine genetic testing

Abstract

Alu-mediated rearrangements in SMN1 can escape routine diagnostic testing. Parallel analysis of SMN gene dosage, SMN transcripts, and total SMN protein levels in PBMC can identify genomic rearrangements and should be considered in genetically undefined SMA cases.