title: Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome.
abstract: 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.
authors.affiliation: Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.
authors.forename: T
authors.initials: T
authors.lastname: Ferlin
authors.forename: P
authors.initials: P
authors.lastname: Landrieu
authors.forename: C
authors.initials: C
authors.lastname: Rambaud
authors.forename: H
authors.initials: H
authors.lastname: Fernandez
authors.forename: R
authors.initials: R
authors.lastname: Dumoulin
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: B
authors.initials: B
authors.lastname: Mousson
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial