SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype

Toshiki Takenouchi, Yohei Matsuzaki, Kazuka Yamamoto, Keisuke Kosaki, Chiharu Torii, Takao Takahashi, Kenjiro Kosaki

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


The classification of bone dysplasia has relied on a clinical/radiographic interpretation and the identification of specific genetic alterations. The clinical presentation of the SOX9 mutation and type 2 collagen disorders overlap with the Pierre-Robin sequence and talipes equinovarus, but the former is often accompanied by the bent long bones. In its milder form, the SOX9 mutation is not necessarily associated with the bent long bones. Here, we report a patient with the Pierre-Robin sequence and talipes equinovarus who did not exhibit either bent long bones or scapular hypoplasia; thus, this patient was instead classified as having a type 2 collagen disorder. Despite this phenotypic presentation, the proposita was found to have a de novo SOX9 mutation. The peculiar location of the mutation within the dimerization domain might account for the relatively mild phenotypic effect of the SOX9 mutation to a degree that is compatible with a clinical diagnosis of type 2 collagen disorder, except for a developmental delay. We concluded that mutations in SOX9 can mimic a type 2 collagen disorder-like phenotype.

Original languageEnglish
Pages (from-to)298-301
Number of pages4
JournalEuropean Journal of Medical Genetics
Issue number6
Publication statusPublished - 2014 May


  • Campomelic dysplasia
  • SOX9
  • Type 2 collagen disorders

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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