A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

Mol Genet Metab. 2009 Nov;98(3):300-4. doi: 10.1016/j.ymgme.2009.06.012. Epub 2009 Jun 25.

Abstract

A baby-girl with congenital deafness was admitted at the age of 8 weeks for lack of head control, truncal hypotonia and echodense kidneys. At the age of 10 weeks cranial MRI showed a normal brain structure, generalized mild hypomyelination but no lactate peak on (1)H MR spectroscopy. A combined defect of respiratory chain enzyme complexes I, III, IV and V and severe depletion of mitochondrial DNA was found in skeletal muscle tissue. Genetic analysis revealed a novel mutation c.368T>C (p.Phe123Ser) in the RRM2B gene in the expressed maternal allele. The paternal allele was present in genomic DNA, but was not expressed as mature mRNA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / metabolism
  • Cell Cycle Proteins / genetics*
  • Deafness / complications
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Mitochondrial Encephalomyopathies / complications
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / pathology
  • Muscle, Skeletal / metabolism
  • Mutation*
  • Ribonucleotide Reductases / genetics*

Substances

  • Cell Cycle Proteins
  • RRM2B protein, human
  • Ribonucleotide Reductases