Clinical and genetic diagnosis of autosomal dominant osteopetrosis typeⅡin a Chinese family:A case report  

作　　者：Hong-Ping Gong Yan Ren Pan-Pan Zha Wen-Yan Zhang Jin Zhang Zhi-Wen Zhang Chun Wang 

机构地区：[1]International Medical Center Ward,General Practice Medical Center,Sichuan University West China Hospital,Chengdu 610041,Sichuan Province,China [2]Department of Endocrinology and Metabolism,Sichuan University West China Hospital,Chengdu 610041,Sichuan Province,China [3]Department of Pathology,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China [4]Department of Endocrinology and Metabolism,The People’s Hospital of Leshan,Leshan 614003,Sichuan Province,China

出　　处：《World Journal of Clinical Cases》2023年第3期700-708,共9页世界临床病例杂志

基　　金：Supported by the Science and Technology Plan Program of Sichuan of China,No.2018JY0608。

摘　　要：BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts.Approximately,80%of autosomal dominant osteopetrosis type II(ADO-II)patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7(ClCN7)gene and present early-onset osteoarthritis or recurrent fractures.In this study,we report a case of persistent joint pain without bone injury or underlying history.CASE SUMMARY We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II.The clinical diagnosis was based on increased bone density and typical radiographic features.Two heterozygous mutations in the ClCN7 and Tcell immune regulator 1(TCIRG1)genes by whole exome sequencing were identified in the patient and her daughter.The missense mutation(c.857G>A)occurred in the CLCN7 gene p.R286Q,which is highly conserved across species.The TCIRG1 gene point mutation(c.714-20G>A)in intron 7(near the splicing site of exon 7)had no effect on subsequent transcription.CONCLUSION This ADO-II case had a pathogenic CLCN7 mutation and late onset without the usual clinical symptoms.For the diagnosis and assessment of the prognosis for osteopetrosis,genetic analysis is advised.

关 键 词：OSTEOPETROSIS Autosomal dominant osteopetrosis typeⅡ DIAGNOSIS Genetic analysis Case report 

分 类 号：R681[医药卫生—骨科学]