Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Expert opinion on medical diagnostics, 2008-01, Vol.2 (1), p.63-79
Ort / Verlag
England: Taylor & Francis
Erscheinungsjahr
2008
Link zum Volltext
Quelle
Taylor & Francis Journals Auto-Holdings Collection
Beschreibungen/Notizen
Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system, and is characterized by ectopic mineralization of elastic fibers of connective tissues. Since the identification of the ABCC6 gene (ATP-binding cassette family C member 6), which encodes a putative transmembrane transporter (ABCC6), as the site of mutations responsible for PXE, a number of researchers have disclosed mutations spanning the entire gene. An important advance in the ability to identify mutations has been the identification of two closely related pseudogenes and identifying sequence differences between the coding gene and the pseudogenes allowing accurate sequencing. In this review, the mutation spectrum in PXE is summarized and a strategy to optimize mutation detection in this difficult disorder is outlined.