摘要
目的探讨软骨发育不全(ACH)合并黄韧带肥厚症病儿临床表现及其家系成员基因检测情况。方法选取2023年8月潍坊市人民医院接诊的1例ACH病儿,采集病儿及其母亲清晨空腹外周静脉血各5 mL,抽取基因组DNA,然后扩增,测序后得到原始测序信息,设计致病突变基因片段相关的引物,进行PCR扩增,然后Sanger测序。结果病儿存在杂合突变c.1138G>A,导致氨基酸发生整码突变(p.Gly380Arg),其母亲也有该基因突变位点。结论FGFR3基因10外显子c.1138G>A的杂合突变为ACH的致病突变,临床结合软骨发育不全合并黄韧带肥厚症的表现,为ACH的诊断提供依据。
Objective To explore the clinical manifestations of a child with achondroplasia(ACH)complicated with hypertrophy of ligamenta flandum,and to perform a genetic test of a child and family members.Methods A child with achondroplasia(ACH),who was admitted to Weifang People´s Hospital in August 2023,peripheral venous blood samples(5 mL each)were collected from the child and the mother after overnight fasting,the genomic DNA was extracted and then amplified,the original sequencing information was ob⁃tained after sequencing,primers related to pathogenic mutation gene fragments were designed for PCR amplification,and then Sanger sequencing was performed.Results The heterozygous mutation c.1138G>A was found in the child,which led to the whole code muta⁃tion of amino acid(p.Gly380Arg).The mother also had the mutation site of this gene.Conclusions The heterozygous mutation of exon 10 of FGFR3 gene c.1138G>A is a pathogenic mutation of ACH.Combined with the clinical manifestations of a child with achondropla⁃sia complicated with hypertrophy of ligamenta flandum,it provide basis for the diagnosis of ACH.
作者
叶丹阳
王晓阳
程丽霞
YE Danyang;WANG Xiaoyang;CHENG Lixia(School of Clinical Medicine,Shandong Second Medical University,Weifang,Shandong 261053,China;Department of Endocrinology,Weifang People's Hospital,the First Affiliated Hospital of Shandong Second Medical University,Weifang,Shandong 261000,China)
出处
《安徽医药》
2025年第9期1857-1860,共4页
Anhui Medical and Pharmaceutical Journal
关键词
染色体畸变
软骨发育不全
黄韧带肥厚
椎体狭窄
成纤维细胞因子3
基因突变
Chromosome aberrations
Achondroplasia
Thickening of ligamentum flavum
Vertebral stenosis
Fibroblast factor 3
Gene mutation
