Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

Molecular Syndromology
T NakaneK Sugita

Abstract

Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. To date, only 12 affected individuals have been reported. All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones. Affected individuals usually develop kyphoscoliosis and asymmetric limb shortening at an early age. Interestingly, some of the skeletal changes overlap with spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, a rare type II collagen disorder. Based on this resemblance we postulated that DSC may be allelic to SEMD Strudwick type and therefore performed a COL2A1 analysis in an affected boy who was diagnosed as having DSC at the age of 3 years. The identification of a novel heterozygous COL2A1 missense mutation (p.Gly753Asp) in the proband confirms our hypothesis and suggests that DSC may be another type II collagen disorder.

Citations

May 29, 2016·Mutation Research. Reviews in Mutation Research·Hao DengLamei Yuan
Jul 14, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Andrea Superti-FurgaGen Nishimura
Dec 21, 2013·American Journal of Medical Genetics. Part a·Frédéric Tran Mau-ThemDavid Geneviève

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