Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

Eur J Pediatr. 2007 Jul;166(7):743-5. doi: 10.1007/s00431-006-0303-0. Epub 2006 Nov 8.

Abstract

A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, X*
  • Dystrophin / genetics*
  • Eye Proteins / genetics
  • Female
  • Gene Deletion*
  • Heterozygote*
  • Humans
  • Membrane Glycoproteins / genetics
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics
  • Pedigree

Substances

  • Dystrophin
  • Eye Proteins
  • Membrane Glycoproteins
  • RPGR protein, human
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases