Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome.
We identified the T8993G mitochondrial mutation in a female infant who died of Leigh syndrome. The proportion of mutant mitochondrial DNA increased to near homoplasmy in three generations of the pedigree. A similarly high proportion of mutant mitochondrial DNA was found in the chorionic villi and in fetal tissues from a pregnancy interrupted because of the risk of Leigh syndrome. This study supports the concept that prenatal diagnosis can be used for Leigh syndrome with the T8993G mitochondrial DNA mutation.
Ferlin
T
T
Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.
Landrieu
P
P
Rambaud
C
C
Fernandez
H
H
Dumoulin
R
R
Rustin
P
P
Mousson
B
B
D000032:Abortion, Therapeutic; D015193:Chorionic Villi Sampling; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015183:Restriction Mapping; D012307:Risk Factors
D004272:DNA, Mitochondrial