Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

ABSTRACT: Spinal muscular atrophy (SMA) is caused by bi-allelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2 copy number is essential to establish robust genotype-phenotype correlations and predict disease evolution, to stratify patients for clinical trials, as well as to define those eligible for treatment. Discordant genotype-phenotype correlations are not uncommon in SMA, some of which are due to intragenic SMN2 variants that may influence the amount of complete SMN transcripts and, therefore, of full-length SMN protein. Detection of these variants is crucial to predict SMA phenotypes in the present scenario of therapeutic advances and with the perspective of SMA neonatal s

SUBMITTER: Blasco-Perez L 

PROVIDER: S-EPMC8252042 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature