Abstract: Combined oxidative phosphorylation deficiency type 7 (COXPD7) is a rare disorder of mitochondrial metabolism that results in optic atrophy and Leigh syndrome–like disease. We describe 2 siblings with compound heterozygous mutations in the recently identified C12orf65 gene who presented with optic atrophy and mild developmental delays and subsequently developed bilateral, symmetric lesions in the brainstem reminiscent of Leigh syndrome. Repeat neuroimaging demonstrated reversibility of the findings in 1 sibling and persistent metabolic stroke in the other. This article highlights the phenotypic manifestations from a novel mutation in the C12orf65 gene and reviews the clinical presentation of the 5 other individuals reported to date who carry mutations in this gene.
Departments of Ophthalmology (GH, JM), Neurology (LC, IA), Genetics (GFC), Radiology (CDR), and Pathology (LAT), Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; and Clinical Development Program, Genzyme (GFC), A Sanofi Company, Cambridge, Massachusetts.
Address correspondence to Irina Anselm, MD, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Fegan 11, Boston, MA 02115; E-mail: firstname.lastname@example.org
The authors report no conflicts of interest.
G. Heidary and L. Calderwood contributed equally to the work.