Title: A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis
Authors: Meulemans, Ann ×
Seneca, Sara
Smet, Joel
De Paepe, Boel
Lissens, Willy
Van Coster, Rudy
Debeer, Anne
De Meirleir, Linda
Jaeken, Jacques #
Issue Date: Jan-2007
Publisher: Saunders
Series Title: European Journal of Paediatric Neurology vol:11 issue:1 pages:17-20
Abstract: 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.
ISSN: 1090-3798
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Department of Health and Technology - UC Leuven
Clinical and Experimental Endocrinology
× corresponding author
# (joint) last author

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