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

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dc.contributor.authorGunes, Nilay
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorBeng, Kubilay
dc.contributor.authorKahraman, Sinan
dc.contributor.authorTuysuz, Beyhan
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:44:19Z
dc.date.available2019-11-17T23:44:19Z
dc.date.issued2018-01-01
dc.description.abstractDysspondyloenchondromatosis (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 previouslyen
dc.identifier.citationGunes 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
dc.identifier.doi10.1159/000488438
dc.identifier.pubmed29928178
dc.identifier.scopus85046024000
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10457
dc.identifier.wosWOS:000439340700003
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.titleLongitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
dc.typeArticle
dspace.entity.typePublication
local.avesis.iddcfdd798-4db4-4d6d-a6b6-65a753f11a16
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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