Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.
McFarland
Robert
R
Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
Clark
Kim M
KM
Morris
Andrew A M
AA
Taylor
Robert W
RW
Macphail
Sheila
S
Lightowlers
Robert N
RN
Turnbull
Douglass M
DM
D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000235:genetics; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
D004272:DNA, Mitochondrial