Is LMNB1 a susceptibility gene for neural tube defects in humans?

ABSTRACT:

Background

Lamins are intermediate filament proteins that form a major component of the nuclear lamina, a protein complex at the surface of the inner nuclear membrane. Numerous clinically diverse conditions, termed laminopathies, have been found to result from mutation of LMNA. In contrast, coding or loss of function mutations of LMNB1, encoding lamin B1, have not been identified in human disease. In mice, polymorphism in Lmnb1 has been shown to modify risk of neural tube defects (NTDs), malformations of the central nervous system that result from incomplete closure of the neural folds.

Methods

Mutation analysis by DNA sequencing was performed on all exons of LMNB1 in 239 samples from patients with NTDs from the United Kingdom, Sweden, and United States. Possible functional

SUBMITTER: Robinson A 

PROVIDER: S-EPMC3738925 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature