Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

ABSTRACT:

Objective

Clinical, radiologic, and molecular analysis of patients with genomic deletions upstream of the LMNB1 gene.

Methods

Detailed neurologic, MRI examinations, custom array comparative genomic hybridization (aCGH) analysis, and expression analysis were performed in patients at different clinical centers. All procedures were approved by institutional review boards of the respective institutions.

Results

Five patients from 3 independent families presented at ages ranging from 32 to 52 years with neurologic symptoms that included progressive hypophonia, upper and lower limb weakness and spasticity, and cerebellar dysfunction and MRIs characterized by widespread white matter alterations. Patients had unique nonrecurrent deletions upstream of the LMNB1,

SUBMITTER: Nmezi B 

PROVIDER: S-EPMC6384018 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature