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A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis

par Meulemans, Ann ;Seneca, Sara;Smet, Joel;De Paepe, Boel;Lissens, Willy;Van Coster, Rudy;Debeer, Anne;De Meirleir, Linda;Jaeken, Jaak
Référence European journal of paediatric neurology, 11, 1, page (17-20)
Publication Publié, 2007-01

Article révisé par les pairs

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Résumé :

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 tRNAGlu gene. Conclusion: We report 2 siblings with the m.14709T>C mutation in the mitochondrial tRNAGlu 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. © 2006 European Paediatric Neurology Society.