A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
作者信息
Meulemans Ann, Seneca Sara, Smet Joel, De Paepe Boel, Lissens Willy, Van Coster Rudy, Debeer Anne, De Meirleir Linda, Jaeken Jaak
机构信息
Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium.
出版信息
Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. doi: 10.1016/j.ejpn.2006.10.004. Epub 2006 Dec 11.
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.
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