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

Ivana Jedličková Anna Přistoupilová Lenka Nosková Filip Majer Viktor Stránecký Hana Hartmannová Kateřina Hodaňová Helena TrešlováMichaela HýblováPeter SolárGabriel MinárikMária GiertlováStanislav Kmoch

Published in: Molecular genetics & genomic medicine (2020)

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.

Keyphrases

clinical practice
genome wide
binding protein
small molecule
protein protein
amino acid
transcription factor