Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
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.
Jakubiczka
Sibylle
S
Institut für Humangenetik, Otto-von-Guericke-Universität, Leipziger Str. 44, 39120 Magdeburg, Germany. sibylle.jakubiczka@medizin.uni-magdeburg.de
Bettecken
Thomas
T
Mohnike
Klaus
K
Schneppenheim
Reinhard
R
Stumm
Markus
M
Tönnies
Holger
H
Volleth
Marianne
M
Wieacker
Peter
P
D002675:Child, Preschool; D041321:Chromosomes, Human, X; D016189:Dystrophin / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree
D016189:Dystrophin; D005136:Eye Proteins; D008562:Membrane Glycoproteins; C099929:RPGR protein, human; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases