Association between lamin B1 gene upstream deletions and atypical autosomal dominant leukodystrophy

Takeaway

  • Deletions upstream of the lamin BI (LMNB1) gene play a pathogenic role in the leukodystrophy phenotype without altering the coding sequence.

Why this matters ?

  • Standard whole-exome sequencing may not identify deletions upstream of LMNB1 and therefore searching for LMNB1 structural variants (duplications and upstream deletions) is an integral part in the investigation of patients with autosomal dominant adult-onset leukodystrophy.