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
Auteur⸱e⸱s
Faivre  L., Prieur  A. M., Le Merrer  M., Hayem  F., Penet  C., Woo  P., Hofer  M., Dagoneau  N., Sermet  I., Munnich  A., Cormier-Daire  V.
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 15:22
Dernière modification de la notice
20/08/2019 14:03
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