title: A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
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.
  
  
  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.
authors.affiliation: Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium.
authors.forename: Ann
authors.initials: A
authors.lastname: Meulemans
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Joel
authors.initials: J
authors.lastname: Smet
authors.forename: Boel
authors.initials: B
authors.lastname: De Paepe
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.forename: Anne
authors.initials: A
authors.lastname: Debeer
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
mesh_terms: 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*
chemical_list: D012352:RNA, Transfer, Glu