GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

ABSTRACT:

Objective

Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2, encoding a gap junction protein essential for production of a mature myelin sheath. A previously identified GJC2 mutation (c.-167A>G) in the promoter region is hypothesized to disrupt a putative SOX10 binding site; however, the lack of additional mutations in this region and contradictory functional data have limited the interpretation of this variant.

Methods

We describe two independent Pelizaeus-Merzbacher-like disease families with a novel promoter region mutation and updated in vitro functional assays.

Results

A novel GJC2 mutation (c.-170A>G) in the promoter region was identified in Pelizaeus-Merzbacher-like disease patients. In vi

SUBMITTER: Gotoh L 

PROVIDER: S-EPMC4183365 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature