Article
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Journal of human genetics - 1 Nov 2024
Wang Zheng, Kometani Mitsuhiro, Zeitlin Leonid, Wilnai Yael, Kinoshita Akira, Yoshiura Koh-Ichiro, Ninomiya Hiroko, Imamura Takeshi, Guo Long, Xue Jingyi, Yan Li, Ohashi Hirofumi, Pretemer Yann, Kawai Shunsuke, Shiina Masaaki, Ogata Kazuhiro, Cohn Daniel H, Matsumoto Naomichi, Nishimura Gen, Toguchida Junya, Miyake Noriko, Ikegawa Shiro
Abstract excerpt
Camurati-Engelmann disease (CED) is an autosomal dominant bone dysplasia characterized by progressive hyperostosis of the skull base and diaphyses of the long bones. CED is further divided into two subtypes, CED1 and CED2, according to the presence or absence of TGFB1 mutations, respectively. In this study, we used exome sequencing to investigate the genetic cause of CED2 in three pedigrees and identified two de...
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