Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood.
Tuppen
Helen A L
HA
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
Fehmi
Janev
J
Czermin
Birgit
B
Goffrini
Paola
P
Meloni
Francesca
F
Ferrero
Iliana
I
He
Langping
L
Blakely
Emma L
EL
McFarland
Robert
R
Horvath
Rita
R
Turnbull
Douglass M
DM
Taylor
Robert W
RW
D000074183:ATPases Associated with Diverse Cellular Activities; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D014450:Electron Transport Complex III / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D005816:Genetic Complementation Test; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics*; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D012441:Saccharomyces cerevisiae; D013347:Subcellular Fractions / Q000201:enzymology; D016019:Survival Analysis; D013997:Time Factors; D055815:Young Adult
C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III