Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

ABSTRACT: Clinical severity and treatment response vary significantly between patients with spinal muscular atrophy. The approval of therapies and the emergence of neonatal screening programmes urgently require a more detailed understanding of the genetic variants that underlie this clinical heterogeneity. We systematically investigated genetic variation other than SMN2 copy number in the SMN locus. Data were collected through our single-centre, population-based study on spinal muscular atrophy in the Netherlands, including 286 children and adults with spinal muscular atrophy Types 1-4, including 56 patients from 25 families with multiple siblings with spinal muscular atrophy. We combined multiplex ligation-dependent probe amplification, Sanger sequencing, multiplexed targeted resequen

SUBMITTER: Wadman RI 

PROVIDER: S-EPMC7425299 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature