Unknown

Dataset Information

0

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.


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.

SUBMITTER: Gunes N 

PROVIDER: S-EPMC6006654 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

altmetric image

Publications

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in <i>COL2A1</i>.

Güneş Nilay N   Yeşil Gözde G   Beng Kubilay K   Kahraman Sinan S   Tüysüz Beyhan B  

Molecular syndromology 20180424 3


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 <i>COL2A1</i> gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the <i>COL2A1</i> gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we re  ...[more]

Similar Datasets

| S-EPMC7012739 | biostudies-literature
| S-EPMC6885821 | biostudies-literature
| S-EPMC7713753 | biostudies-literature
| S-EPMC3094608 | biostudies-literature
| S-EPMC4789174 | biostudies-literature
| S-EPMC4935762 | biostudies-literature
2005-01-18 | GSE1907 | GEO
| S-EPMC8606097 | biostudies-literature
| S-EPMC7864212 | biostudies-literature
| S-EPMC7304364 | biostudies-literature