title: Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.
abstract: Dysspondyloenchondromatosis is a rare form of generalized enchondromatosis associated with spinal involvement. This skeletal dysplasia is characterized by multiple enchondromas present in vertebrae as well as in metaphyseal and diaphyseal parts of the long tubular bones, post-natal short stature, and early development of kyphoscoliosis. A novel heterozygous missense mutation in COL2A1 was recently identified in a patient with dysspondyloenchondromatosis. This suggests that dysspondyloenchondromatosis might expand the already broad spectrum of type II collagenopathies. Here, we report on a young girl with features of dysspondyloenchondromatosis, specifically short stature, thoracoscoliosis, and generalized enchondromas lesions. Sanger sequencing failed to detect a mutation in COL2A1. We therefore suggest that dysspondyloenchondromatosis is a genetically heterogeneous condition.
authors.affiliation: Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Tran Mau-Them
authors.forename: Aurélia
authors.initials: A
authors.lastname: Boualam
authors.forename: Mouna
authors.initials: M
authors.lastname: Barat-Houari
authors.forename: Claire
authors.initials: C
authors.lastname: Jeandel
authors.forename: Jérôme
authors.initials: J
authors.lastname: Cottalorda
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Aurélie
authors.initials: A
authors.lastname: Fabre
authors.forename: Bruno
authors.initials: B
authors.lastname: Dumont
authors.forename: Geneviève
authors.initials: G
authors.lastname: Lefort
authors.forename: Geneviève
authors.initials: G
authors.lastname: Baujat
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Christian
authors.initials: C
authors.lastname: Jorgensen
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics; D004687:Enchondromatosis / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000473:pathology
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: COL2A1 gene; dysspondyloenchondromatosis; skeletal dysplasia