Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome

Intern Med. 2008;47(11):1053-6. doi: 10.2169/internalmedicine.47.0919. Epub 2008 Jun 2.

Abstract

We report a 28-year-old woman patient suffering from refractory subcutaneous abscess. Stimuli-induced microbicidal reactive oxygen metabolites formation test of the patient's neutrophils revealed that only 9.6% of the neutrophils produced H2O2. DNA analysis of the CYBB that encodes gp91(phox) demonstrated that she was heterozygous for a nonsense mutation, 206Trp(TGG)/stop(TGA) and therefore, a diagnosis of adult onset X-linked chronic granulomatous disease was made. Our molecular biological study revealed that her disease was caused by a de novo mutation in the CYBB gene on the paternal-origin X-chromosome and a skewed inactivation of the normal maternal X-chromosome.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Codon, Nonsense*
  • Codon, Terminator / genetics
  • DNA / genetics
  • Female
  • Genes, X-Linked*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / metabolism
  • Granulomatous Disease, Chronic / diagnosis
  • Granulomatous Disease, Chronic / genetics*
  • Granulomatous Disease, Chronic / metabolism
  • Heterozygote
  • Humans
  • Hydrogen Peroxide / metabolism
  • Male
  • Membrane Glycoproteins / genetics*
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics*
  • Neutrophils / metabolism
  • X Chromosome Inactivation

Substances

  • Codon, Nonsense
  • Codon, Terminator
  • Membrane Glycoproteins
  • DNA
  • Hydrogen Peroxide
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases