Kodama Yoshihiko, Meiri Satoru, Asada Tomoko, Matsuyama Misayo, Makino Shinya, Iwai Minayo, Yamaguchi Masatoshi, Moritake Hiroshi
Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Division of Clinical Genetics, University of Miyazaki, Miyazaki, Japan.
Hum Genome Var. 2023 Sep 11;10(1):25. doi: 10.1038/s41439-023-00252-x.
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.
成骨不全症（OI）是一种罕见的遗传性疾病，其特征为骨骼脆弱。在本病例报告中，我们描述了一名患有 XIV 型成骨不全症的患者，该患者的跨膜蛋白 38B（TMEM38B）基因存在一个新的剪接位点变异。需要进一步研究以更好地理解 XIV 型成骨不全症的表型与该变异之间的关系。
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