[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency. We report a homozygous splice site deletion [516-2_516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient Leigh syndrome. Identification of molecular defect is indispensable for genetic counselling and prenatal diagnosis.
Monnot
S
S
Service de génétique médicale, hôpital Archet 2, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 03, France.
Chabrol
B
B
Cano
A
A
Pellissier
J F
JF
Collignon
P
P
Montfort
M F
MF
Paquis-Flucklinger
V
V
D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D011506:Proteins / Q000235:genetics*
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein