A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Chieko Kusano, Masaki Takagi, Naoaki Hori, Jun Murotsuki, Gen Nishimura, Tomonobu Hasegawa

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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.

Original languageEnglish
Article number17003
JournalHuman Genome Variation
Publication statusPublished - 2017 Mar 2


ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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