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

Sibylle Jakubiczka; Thomas Bettecken; Klaus Mohnike; Reinhard Schneppenheim; Markus Stumm; Holger Tönnies; Marianne Volleth; Peter Wieacker

doi:10.1007/s00431-006-0303-0

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

Sibylle Jakubiczka
Thomas Bettecken
Klaus Mohnike
Reinhard Schneppenheim
Markus Stumm
Holger Tönnies
Marianne Volleth
Peter Wieacker

Beteiligte Einrichtungen

Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie

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.

Bibliografische Daten

Originalsprache	Englisch
ISSN	0340-6199
DOIs	https://doi.org/10.1007/s00431-006-0303-0
Status	Veröffentlicht - 07.2007

PubMed	17091258