Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.

ABSTRACT:

Objective

To characterize the genetic and clinical features of patients with autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) carrying duplication and deletion upstream of lamin B1 (LMNB1).

Methods

Ninety-three patients with adult-onset leukoencephalopathy of unknown etiology were genetically analyzed for copy numbers of LMNB1 and its upstream genes. We examined LMNB1 expression by reverse transcription-qPCR using total RNA extracted from peripheral leukocytes. Clinical and MRI features of the patients with ADLD were retrospectively analyzed.

Results

We identified 4 patients from 3 families with LMNB1 duplication. The duplicated genomic regions were different from those previously reported. The mRNA expression level of

SUBMITTER: Mezaki N 

PROVIDER: S-EPMC6340331 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature