Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome.

ABSTRACT:

Background

Nuclear Factor One X (NFIX) haploinsufficiency in humans results in Malan syndrome, a disorder characterized by overgrowth, macrocephaly and intellectual disability. Although clinical assessments have determined the underlying symptomology of Malan syndrome, the fundamental mechanisms contributing to the enlarged head circumference and intellectual disability in these patients remains undefined.

Methods

Here, we used Nfix heterozygous mice as a model to investigate these aspects of Malan syndrome. Volumetric magnetic resonance imaging (MRI) was used to calculate the volumes of 20 brain sub regions. Diffusion tensor MRI was used to perform tractography-based analyses of the corpus callosum, hippocampal commissure, and anterior commissure, as well as structural conn

SUBMITTER: Oishi S 

PROVIDER: S-EPMC6354567 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature