Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Yoshihiko Kodama; Satoru Meiri; Tomoko Asada; Misayo Matsuyama; Shinya Makino; Minayo Iwai; Masatoshi Yamaguchi; Hiroshi Moritake

doi:10.1038/s41439-023-00252-x

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Hum Genome Var. 2023 Sep 11;10(1):25. doi: 10.1038/s41439-023-00252-x.

Authors

Yoshihiko Kodama¹, Satoru Meiri², Tomoko Asada², Misayo Matsuyama², Shinya Makino³, Minayo Iwai³, Masatoshi Yamaguchi³, Hiroshi Moritake²

Affiliations

¹ Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan. [email protected].
² Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
³ Division of Clinical Genetics, University of Miyazaki, Miyazaki, Japan.

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from OI type XIV with a novel splice site variant in the TMEM38B gene. Further research is needed to better understand the relationship between the phenotype of OI type XIV and this variant.