Publication: Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
Loading...
Date
2018-01-01
Authors
Authors
Gunes, Nilay
YEŞİL, GÖZDE
Beng, Kubilay
Kahraman, Sinan
Tuysuz, Beyhan
Journal Title
Journal ISSN
Volume Title
Publisher
Metrics
Abstract
Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in
metaphyseal and diaphyseal parts of the long tubular bones,
and progressive kyphoscoliosis. Although the COL2A1 gene
mutation was found to be responsible for DSC, a case of DSC
with no pathogenic mutation in the COL2A1 gene has also
been reported, suggesting that the condition is genetically
heterogeneous. Here, we report 2 novel heterozygous mutations in COL2A1 in 2 patients with DSC. They had prenatal
onset short stature with unequal limb length and generalized enchondroma-like lesions in metaphyseal and diaphyseal parts of the long tubular bones, and osteopenia. The first
patient was diagnosed at 3 months of age and followed for
10.5 years. Severe lumbosacral scoliosis and recurrent fractures were observed. The second patient was diagnosed at
the age of 4 years. Mild deterioration in scoliosis was observed during the 3-year-long follow-up period. However,
skeletal radiography of both patients showed the improvement of enchondromatous lesions. In conclusion, we verified that the COL2A1 gene mutations are responsible for the
DSC phenotype. We observed severe osteopenia and fractures which were not reported previously
Description
Keywords
Citation
Gunes N., YEŞİL G., Beng K., Kahraman S., Tuysuz B., -Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1-, MOLECULAR SYNDROMOLOGY, cilt.9, ss.134-140, 2018