中华骨质疏松和骨矿盐疾病杂志2023，Vol.16Issue(5)：450-457,8.DOI:10.3969/j.issn.1674-2591.2023.05.005
进行性骨干发育不良致病基因鉴定
Identification of pathogenic genes of progressive diaphyseal dysplasia
摘要
Abstract
Objective To identify the causative gene and explore the clinical characteristics,biochemical indi-cators,and radiological features in a patient with progressive diaphyseal dysplasia(PDD).Methods A 20-year-old male patient complained of"lower limbs pain with abnormal gait for 17 years"was recruited in our study,clinical data and supplementary examinations were collected.Transforming growth factor beta 1(TGFβ1)gene mutation was identified in patients and family members by using Sanger sequencing.Results Heterozygous mutation of TGFβ1 c.652C＞T(p.Arg218Cys)was detected by Sanger sequencing.No mutation was found in other family members.Conclusion TGFβ1 is the pathogenic gene leading to PDD,and c.652C＞T(p.Arg218Cys)in exon 4 is a hot spot mutation.PDD is early onset and involves long bones in the limbs with thin muscle tissue,leading to abnormal gait and limited mobility,se-riously affecting quality of life.关键词
进行性骨干发育不良/转化生长因子β1/基因突变Key words
progressive diaphyseal dysplasia/transforming growth factor beta 1/gene mutation分类
医药卫生引用本文复制引用
杨文迪,陶晓卉,徐甜,章振林,岳华..进行性骨干发育不良致病基因鉴定[J].中华骨质疏松和骨矿盐疾病杂志,2023,16(5):450-457,8.基金项目
国家自然科学基金(81770874,81974126,82270932) （81770874,81974126,82270932）
