Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

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

doi:10.1038/s41439-018-0012-z

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Hum Genome Var. 2018 Jun 8:5:12. doi: 10.1038/s41439-018-0012-z. eCollection 2018.

Authors

Yosuke Ichihashi¹, Masaki Takagi^{1

2}, Tomohiro Ishii¹, Kenji Watanabe³, Gen Nishimura⁴, Tomonobu Hasegawa¹

Affiliations

¹ 1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
² 2Department of Clinical Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
³ 3Department of Pediatrics, Kagoshima City Hospital, Kagoshima, Japan.
⁴ 4Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan.

Abstract

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.

Publication types

Case Reports