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


OBJECTIVE
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.


CONCLUSIONS
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.
Meulemans
Ann
A
Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium.
Seneca
Sara
S
Smet
Joel
J
De Paepe
Boel
B
Lissens
Willy
W
Van Coster
Rudy
R
Debeer
Anne
A
De Meirleir
Linda
L
Jaeken
Jaak
J
D017523:Croatia; D005260:Female; D050259:Genes, Mitochondrial / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D012352:RNA, Transfer, Glu / Q000235:genetics*
D012352:RNA, Transfer, Glu