Prenatal diagnosis of mitochondrial DNA8993 T----G disease.
We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
Harding
A E
AE
University Department of Clinical Neurology, Institute of Neurology, London, England.
Holt
I J
IJ
Sweeney
M G
MG
Brockington
M
M
Davis
M B
MB
D002675:Child, Preschool; D015193:Chorionic Villi Sampling; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008931:Mitochondria, Muscle / Q000737:chemistry; D009035:Mothers; D009154:Mutation; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome
D004272:DNA, Mitochondrial