Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 3; pp. 769 - 773
• Main Authors: Tran Mau-Them, Frédéric, Boualam, Aurélia, Barat-Houari, Mouna, Jeandel, Claire, Cottalorda, Jérôme, Cormier-Daire, Valérie, Fabre, Aurélie, Dumont, Bruno, Lefort, Geneviève, Baujat, Geneviève, Le Merrer, Martine, Jorgensen, Christian, Touitou, Isabelle, Geneviève, David
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.03.2014; Wiley Subscription Services, Inc; Wiley
• Subjects: Bone and Bones - diagnostic imaging; Bone and Bones - pathology; Child, Preschool; COL2A1 gene; Collagen Type II - genetics; dysspondyloenchondromatosis; Enchondromatosis - diagnosis; Enchondromatosis - genetics; Facies; Female; Genetic Heterogeneity; Humans; Life Sciences; Mutation; Phenotype; Radiography; skeletal dysplasia; Spine - pathology; COL2A1 gene; skeletal dysplasia; dysspondyloenchondromatosis; COL2A1gene
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36331

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. © 2013 Wiley Periodicals, Inc.