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

ConclusionAlu‐mediated rearrangements inSMN1 can escape routine diagnostic testing. Parallel analysis ofSMN gene dosage,SMN transcripts, and total SMN protein levels in PBMC can identify genomic rearrangements and should be considered in genetically undefined SMA cases.

Source: Molecular Genetics & Genomic Medicine - April 25, 2020 Category: Genetics & Stem Cells Authors: Ivana Jedli čková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch Tags: CLINICAL REPORT Source Type: research