Title : A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Pub. Date : 2019 Jun

PMID : 31193991






2 Functional Relationships(s)
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1 Exome sequencing identified a novel de novo heterozygous glycine substitution, c.3296G > A, p.Gly1099Glu, in exon 49 of COL1A2. Glycine collagen type I alpha 2 chain Homo sapiens
2 Here, we demonstrate that the novel glycine substitution in the carboxyl region of alpha2(I) collagen triple helix leads to OI/EDS with brachydactyly and severe tooth defects, expanding the genotypic and phenotypic spectra of OI/EDS overlap syndrome. Glycine collagen type I alpha 2 chain Homo sapiens