COL1A2基因p.G247R变异致成年发病成骨不全合并 KCNB1基因p.M460V变异致癫痫1例  

A case of adult onset osteogenesis imperfecta caused by the COL1A2 gene p. G247R mutation combined with epilepsy caused by the KCNB1 gene p. M460V mutation

作　　者：刘英晓 杨亚超 林雯雯 张玉盼 王永笛 Liu Yingxiao;Yang Yachao;Lin Wenwen;Zhang Yupan;Wang Yongdi(Department of Endocrinology,Weihai Municipal Hospital,Cheeloo College of Medicine,Shandong University,Weihai 264200,China)

机构地区：[1]山东大学附属威海市立医院内分泌科,威海264200

出　　处：《国际遗传学杂志》2024年第3期229-233,共5页International Journal of Genetics

摘　　要：目的探讨1例成年发病成骨不全合并癫痫患者的临床遗传学特点。方法采用高通量测序技术分析1例以腰背部疼痛为首发表现成年发病成骨不全合并癫痫的遗传学特点。结果患者, 男, 30岁, 因腰背部疼痛入院, 基因检测发现该患者存在COL1A2基因c.739G>C (p.G247R)及KCNB1基因c.1378A>G (p.M460V)杂合变异, 该位点遗传自父亲。结论 COL1A2基因突变及KCNB1基因突变是导致患者成年发病成骨不全合并癫痫的遗传学病因。Objective To explore the clinical genetic characteristics of the patient with adult onset osteogenesis imperfecta and epilepsy.Method Using high throughout sequencing technology to analyze the genetic characteristics of one case of adult onset osteogenesis imperfecta with low back pain as the initial manifestation combined with epilepsy.Results A 30-year-old male with low back pain was admitted to the hospital.The genetic detection revealed that there were heterozygous variations of COL1A2 gene c.739G>C(p.G247R)and KCNB1 gene c.1378A>G(p.M460V),which were inherited from his father.Conclusion COL1A2 gene mutation and KCNB1 gene mutation are genetic causes that lead to adult onset osteogenesis imperfecta combined with epilepsy in the patient.

关 键 词：COL1A2 KCNB1 成骨不全 癫痫 

分 类 号：R681[医药卫生—骨科学] R742.1[医药卫生—外科学]