A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

ABSTRACT:

Background

Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic hypoglycemia, and later-onset axonal sensory neuropathy with episodic myoglobinuria.

Methods

To identify the causative and characterize clinical features of a Korean family with motor and sensory neuropathies, whole exome study (WES), histopathologic study of distal sural nerve, and lower limb MRIs were performed.

Results

WES revealed that a compound heterozygous mutation in HADHB is the causat

SUBMITTER: Hong YB 

PROVIDER: S-EPMC4029087 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature