A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
HUMAN GENOME VARIATION(2017)
摘要
Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1 . This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC.
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关键词
Disease genetics,Genetics research,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy
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