SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

ABSTRACT:

Objective

To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease.

Methods

We describe 2 patients from a consanguineous family with demyelinating autosomal recessive CMT disease (CMT4) associated with the homozygous splice site mutation c.107-2A>G in the SURF1 gene, encoding an assembly factor of the mitochondrial respiratory chain complex IV. This observation led us to hypothesize that mutations in SURF1 might be an unrecognized cause of CMT4, and we investigated SURF1 in a total of 40 unrelated patients with CMT4 after exclusion of mutations in known CMT4 genes. The functional impact of c.107-2A>G on splicing, amount of SURF1 protein, and on complex IV activity and assembly was analyzed.

Results

Another patient with CMT4 w

SUBMITTER: Echaniz-Laguna A 

PROVIDER: S-EPMC3888171 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature