Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2008 Nov;65(11):1496-501.
doi: 10.1001/archneur.65.11.1496.

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

Inge A Meijer  1 , Ana A Simoes-Lopes, Sandra Laurent, Tanya Katz, Judith St-Onge, Dominique J Verlaan, Nicolas Dupré, Manon Thibault, Johanne Mathurin, Jean-Pierre Bouchard, Guy A Rouleau
Affiliations

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

Inge A Meijer et al. Arch Neurol. 2008 Nov.

Abstract

Objective: To identify the underlying locus and disease-causing mutation for adult-onset autosomal dominant leukodystrophy (ADLD).

Design: Previously, an adult-onset ADLD locus on chromosome 5q23 was mapped between markers D5S1495 and CTT/CCT15. This region contains 13 known and putative candidate genes. A 2-point linkage analysis confirmed linkage of a large multigenerational French Canadian family to chromosome 5q23. In addition, screening of the 13 genes within the candidate interval as well as 5 neighboring genes was completed, followed by comparative genomic hybridization.

Subjects: A multigenerational French Canadian family with ADLD mimicking progressive multiple sclerosis was identified and studied. Eight affected family members were available for the study and presented with autonomic dysfunction as well as upper motorneuron signs affecting gait.

Results: The thorough candidate gene approach did not identify any mutation. Consequently, a whole-chromosome comparative genomic hybridization for chromosome 5 identified a 280-kilobase duplication within the chromosomal band 5q23.2 in 2 affected individuals. This duplication contains 3 genes: LMNB1, FLJ36242, and MARCH3.

Conclusion: We have identified a novel duplication on chromosomal band 5q23.2 in a French Canadian family with ADLD that supports the implication of duplicated LMNB1 as the disease-causing mutation. However, additional functional studies of lamin B1 overexpression are necessary to elucidate the involvement of lamin B1 in myelination and in degenerative disorders such as ADLD and multiple sclerosis.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms