Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, Kenji Watanabe, Gen Nishimura, Tomonobu Hasegawa

Research output: Contribution to journalArticlepeer-review


Mutations in the cartilage oligomeric matrix protein (COMP) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED.

Original languageEnglish
Article number12
JournalHuman Genome Variation
Issue number1
Publication statusPublished - 2018 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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