Callosome

Gene: ATPAF2

Red List (low evidence)

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years.

De Meirleir et al. (2004) identified homozygosity for a missense mutation in the ATPAF2 gene (W94R), in a female infant with decreased complex V activity, The consanguineous Moroccan parents and a healthy sib were heterozygous for the mutation, which was not found in 50 healthy Moroccan controls.

One case only.

Created: 19 May 2022, 11:35 p.m. | Last Modified: 19 May 2022, 11:35 p.m.

Panel Version: 0.446

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273

Publications

• PMID: 14757859