Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344362 | Molecular Genetics and Metabolism | 2010 | 4 Pages |
Abstract
In the light of recent reports linking cases of type IV 3-methylglutaconic aciduria (3-MGCA) and hypertrophic cardiomyopathy to mutations in TMEM70, we proceeded with sequencing analysis of this gene. We identified one previously reported splice site mutation, c.317-2A>G and a novel mutation c.494G>A (p.G165D) in an evolutionarily conserved region predicted to be deleterious. This variant was not identified in 100 chromosomes of healthy control subjects and 200 chromosomes of patients with cardiomyopathies. Western blotting using a polyclonal antibody against ATP5J, subunit F6 of ATP synthase, on patient's skin fibroblasts showed undetectable amount of the ATP5J protein. In comparison to the previously reported cases, we note that our patient had normal growth parameters and cognitive development, absence of structural heart and urinary tract defects, no dysmorphic features, improvement of symptoms with age, and persistence of hypertrophic cardiomyopathy.
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Authors
Oleg A. Shchelochkov, Fang-Yuan Li, Jing Wang, Hongli Zhan, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia,