Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy

J Child Neurol. 2013 Feb;28(2):264-8. doi: 10.1177/0883073812441067. Epub 2012 Apr 24.


Prenatal diagnosis of disorders due to mitochondrial DNA (mtDNA) tRNA gene mutations is problematic. Experience in families harboring the protein-coding ATPase 6 m.8993T>G mutation suggests that the mutant load is homogeneous in different tissues, thus allowing prenatal diagnosis. We have encountered a novel protein-coding gene mutation, m.10198C>T in MT-ND3. A baby girl homoplasmic for this mutation died at 3 months after severe psychomotor regression and respiratory arrest. The mother had no detectable mutation in accessible tissues. The product of a second pregnancy showed only wild-type mt genomes in amniocytes, chorionic villi, and biopsied fetal muscle. This second girl is now 18 months old and healthy. Our observations support the concept that the pathogenic mutation in this patient appeared de novo and that fetal muscle biopsy is a useful aide in prenatal diagnosis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Cytochromes c / metabolism
  • DNA Mutational Analysis
  • DNA, Mitochondrial
  • Family Health
  • Female
  • Fetal Growth Retardation* / diagnosis
  • Fetal Growth Retardation* / genetics
  • Fetal Growth Retardation* / physiopathology
  • Humans
  • Infant
  • Male
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation / genetics*
  • Pregnancy
  • Prenatal Diagnosis*


  • DNA, Mitochondrial
  • MT-ATP6 protein, human
  • Cytochromes c
  • Mitochondrial Proton-Translocating ATPases