Pseudoxanthoma elasticum: genetic diagnostic markers.
Expert Opin Med Diagn
; 2(1): 63-79, 2008 Jan.
Article
en En
| MEDLINE
| ID: mdl-23485117
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Expert Opin Med Diagn
Año:
2008
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Reino Unido