Human Genome Variation (Sep 2023)

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
https://doi.org/10.1038/s41439-023-00252-x
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 2

Abstract

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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.