A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

Clinical neuropathology ·Vol. 28 ·No. 2 ·2009-00-00 ·Pages 143-9

Mobley BC, Enns GM, Wong LJ, Vogel H

Abstract

Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date with SCO2 deficiency share a common p.E140K mutation in at least 1 allele. In order to further the understanding of the genotype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy, we describe a novel homozygous SCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry.

MeSH Terms

Alkyl and Aryl Transferases/genetics Base Sequence Cardiomyopathies/genetics,pathology Carrier Proteins/genetics Consanguinity Electron Transport Electron Transport Complex IV Fatal Outcome Female Humans Infant, Newborn Male Membrane Proteins/genetics Mitochondrial Encephalomyopathies/genetics,pathology Mitochondrial Proteins/genetics Molecular Chaperones Molecular Sequence Data Muscle, Skeletal/pathology Mutation Pedigree Sequence Homology, Nucleic Acid

Chemicals

Carrier Proteins Membrane Proteins Mitochondrial Proteins Molecular Chaperones SCO1 protein, human SCO2 protein, human Surf-1 protein COX10 protein, human Electron Transport Complex IV Alkyl and Aryl Transferases

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Mobley B C

Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA. bretmobley@gmail.com

Enns G M

Wong L-J

Vogel H

Article Info

Journal

Clinical neuropathology

Abbr.

Clin Neuropathol

ISSN

0722-5091

DOI

10.5414/npp28143

bretmobley@gmail.com

Published

2009-00-00

Pages

143-9

Language

English

Region

Germany

NLM ID

8214420

Subset

External Links

PubMed source DOI: 10.5414/npp28143 View journal details

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A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

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