Disorders

Leigh Syndrome (nuclear DNA mutation)

Synonym(s): Leigh Disease, Leigh Syndrome Due to Cytochrome c Oxidase Deficiency

Gene	Locus	Protein
BCS1L	2q35	Mitochondrial chaperone BCS1
COX10	17p12
DLD	7q31-q32	Dihydrolipoyl dehydrogenase
MTFMT	15q22.31
NDUFA1	Xq24	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
NDUFA10	2q37.3	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10
NDUFAF2	5q12.1
NDUFAF6	8q22.1
NDUFS1	2q33-q34
NDUFS3	11p11.11	NADH dehydrogenase [ubiquinone] iron-sulfur protein 3
NDUFS4	5q11.1	NADH dehydrogenase [ubiquinone] iron-sulfur protein 4
NDUFS7	19p13	NADH dehydrogenase [ubiquinone] iron-sulfur protein 7
NDUFS8	11q13.2	NADH dehydrogenase [ubiquinone] iron-sulfur protein 8
NDUFV1	11q13
SCO1	17p13.1	Protein SCO1 homolog
SCO2	22q13.33	Protein SCO2 homolog
SDHA	5p15	Succinate dehydrogenase [ubiquinone] flavoprotein subunit
SURF1	9q33-q34

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic	• Enzyme assay • Protein analysis
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa
Novogenia - Mondsee, Austria
Praxis fuer Humangenetik Wien - Vienna, Austria
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.