• Hao Deng, Dan He, Pengfei Rong, Hongbo Xu, Lamei Yuan, Liu Li, Qian Lu, and Yi Guo.
• Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China hdeng008@yahoo.com yiguo0816@yahoo.com.
• Mol Pain. 2016 Jan 1; 12.

AbstractOsteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerful and effective molecular diagnostic tool for detecting mutations in osteopetrosis, which is a genetically and clinically heterogeneous disorder. This discovery broadens the CLCN7 gene mutation spectrum and has important implications for clinical therapeutic regimen decisions, prognosis evaluations, and antenatal diagnoses. © The Author(s) 2016.

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