title: Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
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.
authors.affiliation: 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.
authors.forename: Gena
authors.initials: G
authors.lastname: Heidary
authors.forename: Laurel
authors.initials: L
authors.lastname: Calderwood
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Cox
authors.forename: Caroline D
authors.initials: CD
authors.lastname: Robson
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Teot
authors.forename: Jennifer
authors.initials: J
authors.lastname: Mullon
authors.forename: Irina
authors.initials: I
authors.lastname: Anselm
mesh_terms: D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007888:Leigh Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D010454:Peptide Termination Factors / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D035781:Siblings
chemical_list: D004247:DNA; D024101:Mitochondrial Proteins; D010454:Peptide Termination Factors; C551030:MTRFR protein, human