Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta

@article{Lv2016TwoNM,
  title={Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta},
  author={F. J. Lv and Xiaojie Xu and Jian-yi Wang and Yi Liu and Asan and Jia-wei Wang and Li-jie Song and Yu-wen Song and Yan Jiang and Ou Wang and W Xia and Xiao-ping Xing and Mei Li},
  journal={Journal of Human Genetics},
  year={2016},
  volume={61},
  pages={539-545}
}
Osteogenesis imperfecta (OI) is a group of clinically and genetically heterogeneous disorders characterized by decreased bone mass and recurrent bone fractures. Transmembrane protein 38B (TMEM38B) gene encodes trimeric intracellular cation channel type B (TRIC-B), mutations of which will lead to the rare form of autosomal recessive OI. Here we detected pathogenic gene mutations in TMEM38B and investigated its phenotypes in three children with OI from two non-consanguineous families of Chinese… CONTINUE READING