Mitochondrial Complex I Deficiency, Nuclear Type 13

A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 13 (MC1DN13) is caused by homozygous mutation in the NDUFA2 gene (602137) on chromosome 5q31. One such patient has been reported.

For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.

Clinical Features

Hoefs et al. (2008) reported a boy, born to first-cousin Turkish parents, with mitochondrial complex I deficiency manifesting as Leigh syndrome (see 256000). The boy had hypertrophic cardiomyopathy and developmental delay from birth, and brain MRI showed cerebral atrophy and hypoplasia of the corpus callosum. After a varicella infection, he developed severe acidosis, seizures, and coma, and died of cardiovascular arrest at age 11 months. MRI just before death showed demyelinization of corticospinal tracts and subacute necrotizing encephalomyelopathy consistent with Leigh syndrome.

Molecular Genetics

In a Turkish boy, born to first-cousin parents, with mitochondrial complex I deficiency manifesting as Leigh syndrome, Hoefs et al. (2008) identified a homozygous splice site mutation in the NDUFA2 gene (602137.0001).