Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

Détails

ID Serval
serval:BIB_0B945EA0F5C1
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Périodique
American Journal of Medical Genetics
Auteur(s)
Unger S., Hecht J.T.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Statut éditorial
Publié
Date de publication
2001
Volume
106
Numéro
4
Pages
244-250
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review Publication Status: ppublish
Résumé
Pseudoachondroplasia (PSACH) (OMIM#177170) and multiple epiphyseal dysplasia (MED) are separate but overlapping osteochondrodysplasias. PSACH is a dominantly inherited disorder characterized by short-limb short stature, loose joints, and early-onset osteoarthropathy. The diagnosis is based on characteristic clinical and radiographic findings. Only mutations in the cartilage oligomeric matrix protein (COMP) gene have been reported in PSACH, and all family studies have been consistent with linkage to the COMP locus on chromosome 19. Multiple epiphyseal dysplasia (MED) is a relatively mild chondrodysplasia but like PSACH, MED causes early-onset joint degeneration, particularly of the large weight-bearing joints. Given the clinical similarity between PSACH and MED, it was not surprising that the first MED locus identified was the COMP gene (EDM1). Mutations causing MED have now been identified in five other genes (COL9A1, COL9A2, COL9A3, DTDST, and MATN3), making MED one of the most genetically heterogeneous disorders. This article reviews the clinical features of PSACH and MED, the known mutations, and the pathogenetic effect of COMP mutations on the cartilage extracellular matrix.
Mots-clé
Achondroplasia/etiology, Achondroplasia/genetics, Cartilage Oligomeric Matrix Protein, Child, Preschool, Collagen Type IX/genetics, Extracellular Matrix Proteins/genetics, Glycoproteins/genetics, Humans, Matrilin Proteins, Mutation, Osteochondrodysplasias/etiology, Osteochondrodysplasias/genetics
Pubmed
Web of science
Création de la notice
20/06/2015 13:02
Dernière modification de la notice
20/08/2019 13:33
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