Plastin3基因变异致成骨不全症一例报告  

Osteogenesis imperfecta caused by plastin3 gene variation:a case report

作　　者：张玄娥 王博 胡孙君 周尊海 ZHANG Xuan-e;WANG Bo;HU Sun-jun;ZHOU Zun-hai(Department of Endocrinology,Yangpu Hospital,Tongji University,Shanghai 200090,China;Department of Orthopedics,Yangpu Hospital,Tongji University,Shanghai 200090,China)

机构地区：[1]同济大学附属杨浦医院内分泌科,上海200090 [2]同济大学附属杨浦医院骨科,上海200090

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2023年第6期584-590,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金面上项目(81873989)。

摘　　要：成骨不全症(OI)是一类病因复杂的遗传性骨疾病,骨重建和骨矿化相关基因的变异可能引起成骨不全和骨质疏松的发生。本文报道一例罕见的plastin3(PLS3)基因变异导致成骨不全症病例,PLS3基因编码蛋白对调节肌动蛋白细胞骨架具有重要作用。该患者为20岁女性,因反复骨痛入院,临床表现为脊柱侧弯、骨质疏松,全外显子测序结果显示患者为PLS3基因c.1760+1G>T(exon15,NM_005032)杂合剪接突变。其父母均未发现该位点突变,提示为自发PLS3基因变异。本研究发现成骨不全症患者PLS3基因新突变位点c.1760+1G>T杂合剪接突变,丰富了中国人群成骨不全症PLS3基因致病突变谱。Osteogenesis imperfecta(OI)is a type of genetic bone disease with complex etiology.Variations in genes related to bone reconstruction and bone mineralization may cause OI and osteoporosis.This article reports an OI case caused by a rare plastin3(PLS3)gene mutation.The protein encoded by the PLS3 gene plays an important role in regulating the actin cytoskeleton.A 20-year-old woman was admitted to the hospital for recurring bone pain and diagnosed with scoliosis and osteoporosis.The exon gene sequencing results showed that the patient had a heterozygous splicing mutation of the PLS3 gene c.1760+1G>T(exon15,NM_005032).Since no mutation of this site was detected in the patient's parents,it suggested a case of spontaneous mutation of the PLS3 gene.The newly found c.1760+1G>T of the PLS3 gene splicing mutation in this case enriches our understanding of the pathogenic mutation spectrum in the Chinese OI patients.

关 键 词：成骨不全症 plastin3基因 剪接突变 

分 类 号：R681[医药卫生—骨科学]