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Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene: Report of a Novel Mutation and Review of the Literature

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Title Journal of Neuro-Ophthalmology, March 2014, Volume 34, Issue 1
Date 2014-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s67979sg
Setname ehsl_novel_jno
ID 227572
Reference URL https://collections.lib.utah.edu/ark:/87278/s67979sg

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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
Creator Heidary, Gena; Calderwood, Laurel; Cox, Gerald F; Robson, Caroline D; Teot, Lisa A; Mullon, Jennifer; Anselm, Irina
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
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.
Subject Child; Child, Preschool; DNA; DNA Mutational Analysis; Female; Follow-Up Studies; Humans; Leigh Disease; Magnetic Resonance Imaging; Male; Mitochondrial Proteins; Mutation; Optic Atrophy; Peptide Termination Factors; Phenotype; Siblings
OCR Text Show
Format application/pdf
Publication Type Journal Article
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
Setname ehsl_novel_jno
ID 227548
Reference URL https://collections.lib.utah.edu/ark:/87278/s67979sg/227548
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