European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2006
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Meulemans Ann, Seneca Sara, Smet Joel, De Paepe Boel, Lissens Willy, Van Coster Rudy, Debeer Anne, De Meirleir Linda, Jaeken Jaak
Аннотация
BACKGROUND: In the heterogeneous group of mitochondrial disorders, patients with the same genotype can show different phenotypes and the same phenotype can be caused by different genotypes. We describe a family with the m.14709T>C mutation and a clinical presentation of hydrops fetalis, in contrast to previous reports in which patients presented with myopathy and/or diabetes mellitus.
AIM: To identify a mutation in the mtDNA of a family with a heterogeneous clinical presentation.
METHODS: Both biochemical and molecular analyses were performed.
RESULTS: Biochemical results showed a decreased complex I and IV activity in muscle tissue of the patients. A mosaic-staining pattern for complex I in the patients' fibroblasts was revealed using immunocytochemistry. Molecular analyses identified the m.14709T>C mutation in the mitochondrial encoded tRNA(Glu) gene.
CONCLUSION: We report 2 siblings with the m.14709T>C mutation in the mitochondrial tRNA(Glu) gene. The first patient showed hydrops fetalis, a new presentation within the clinical spectrum of this mutation, and the other a known presentation namely mild myopathy.
AIM: To identify a mutation in the mtDNA of a family with a heterogeneous clinical presentation.
METHODS: Both biochemical and molecular analyses were performed.
RESULTS: Biochemical results showed a decreased complex I and IV activity in muscle tissue of the patients. A mosaic-staining pattern for complex I in the patients' fibroblasts was revealed using immunocytochemistry. Molecular analyses identified the m.14709T>C mutation in the mitochondrial encoded tRNA(Glu) gene.
CONCLUSION: We report 2 siblings with the m.14709T>C mutation in the mitochondrial tRNA(Glu) gene. The first patient showed hydrops fetalis, a new presentation within the clinical spectrum of this mutation, and the other a known presentation namely mild myopathy.