Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Détails
ID Serval
serval:BIB_4E5669D98793
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Périodique
American Journal of Medical Genetics
ISSN
0148-7299
Statut éditorial
Publié
Date de publication
11/2000
Peer-reviewed
Oui
Volume
95
Numéro
3
Pages
233-6
Notes
Journal Article --- Old month value: Nov 27
Résumé
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions have been observed in some patients. Recently, the disease gene has been assigned to human chromosome region 1q25-q31, and truncating mutations have been identified in the megakaryocyte stimulating factor gene. Studying 12 patients from 8 unrelated families, we emphasized hip and spine involvement, particularly in the course of the disease as shown in a 58-year-old patient. Despite clinical variability, linkage studies support genetic homogeneity of the disease.
Mots-clé
Adolescent
Child
Child, Preschool
Chromosomes, Human, Pair 1
Female
Genetic Heterogeneity
Hip
Humans
Joint Diseases/*genetics/*pathology/radiography
Linkage (Genetics)
Male
Microsatellite Repeats
Middle Aged
Osteoporosis/genetics
Pericarditis/*genetics/pathology
Phenotype
Syndrome
Pubmed
Web of science
Création de la notice
20/01/2008 16:22
Dernière modification de la notice
20/08/2019 15:03