Song Xiu-Li, Peng Li-Yuan, Wang Dao-Wen, Wang Hong
Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
World J Clin Cases. 2022 Jul 16;10(20):6936-6943. doi: 10.12998/wjcc.v10.i20.6936.
Osteopetrosis is a family of extremely rare diseases caused by failure of osteoclasts and impaired bone resorption. Among them, autosomal dominant osteopetrosis type II (ADO II), related to the chloride channel 7 () gene, is the most frequent form of osteopetrosis. In this study, we report a mutation of in a patient without the family history of ADO II.
A 5-year-old Chinese boy with ADO II was found to have a mutation in the gene [c.746C>T (p.P249L)]. Typical clinical manifestations, including thickening of the cortex of spinal bones and long bones, non-traumatic fracture of the femoral neck, and femoral head necrosis, were found in this patient. The patient is the first reported case of ADO II with the missense mutation c.746C>T (p.P249L) of the gene reported in China. We also review the available literature on ADO II-related mutations, including baseline patient clinical features, special clinical significance, and common mutations.
Our report will enrich the understanding of mutations in ADO II patients. The possibility of a mutation should be considered in individuals who have no family history of osteopetrosis.
骨质石化症是一类极为罕见的疾病，由破骨细胞功能障碍和骨吸收受损引起。其中，与氯离子通道7（CLCN7）基因相关的常染色体显性II型骨质石化症（ADO II）是骨质石化症最常见的形式。在本研究中，我们报告了1例无ADO II家族史患者的CLCN7基因突变情况。
一名5岁患ADO II的中国男孩被发现CLCN7基因存在[c.746C>T（p.P249L）]突变。该患者具有典型的临床表现，包括脊椎骨和长骨皮质增厚、非创伤性股骨颈骨折以及股骨头坏死。该患者是中国首例报道的携带CLCN7基因错义突变c.746C>T（p.P249L）的ADO II病例。我们还回顾了关于ADO II相关CLCN7基因突变的现有文献，包括患者的基线临床特征、特殊临床意义和常见突变。
我们的报告将丰富对ADO II患者基因突变的认识。对于无骨质石化症家族史的个体，应考虑CLCN7基因突变的可能性。
