Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA
- 9 December 2002
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 23 (1) , 31-33
Abstract
Leigh syndrome (LS) is a mitochondrial encephalopathy that is caused by a mutation either in the mitochondrial DNA (mtDNA) or in the nuclear encoded genes of the mitochondrial proteins. Prenatal diagnosis of defects in the mtDNA is usually problematic because of mtDNA heteroplasmy and tissue specificity. However, the mutations T8993 G/C in the ATP synthase subunit 6 gene of the mtDNA show a more even tissue distribution and do not appear to change significantly over time. There are only few reports of prenatal diagnosis of the T8993G mutation in Leigh disease. Here we describe the first prenatal genetic testing of T8993C in a fetus of a mother whose previous child had died of Leigh syndrome due to the T8993C mutation. Mutant load in the chorionic villus sample (CVS) as well as in amniocytes was undetectable, thus predicting a very high likelihood of an unaffected outcome, indicative of a healthy baby. The diagnosis was confirmed after birth. Gathering data on the prenatal diagnosis of mtDNA mutations is of great importance so that prenatal diagnosis of both T8993G and T8993C mutations can be offered routinely. Copyright © 2002 John Wiley & Sons, Ltd.Keywords
This publication has 14 references indexed in Scilit:
- Genetic Counseling and Prenatal Diagnosis for mtDNA DiseaseThe American Journal of Human Genetics, 1998
- Phenotypic Differences Between T → C and T → G Mutations at nt 8993 of Mitochondrial DNA in Leigh SyndromePediatric Neurology, 1998
- Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human OocytesThe American Journal of Human Genetics, 1997
- Prospects for DNA-based prenatal diagnosis of mitochondrial disordersPrenatal Diagnosis, 1996
- Leigh syndrome: Clinical features and biochemical and DNA abnormalitiesAnnals of Neurology, 1996
- Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiencyNature Genetics, 1995
- A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndromeNeurology, 1994
- The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeAnnals of Neurology, 1993
- A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndromeAnnals of Neurology, 1993
- Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndromeThe Journal of Pediatrics, 1990