| 叶丹阳,王晓阳,程丽霞.软骨发育不全合并黄韧带肥厚症 1例并文献分析[J].安徽医药,2025,29(9):1857-1860. |
| 软骨发育不全合并黄韧带肥厚症 1例并文献分析 |
| Achondroplasia complicated with hypertrophy of ligamentum flavum: a case report and literature analysis |
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| DOI：10.3969/j.issn.1009-6469.2025.09.033 |
| 中文关键词: 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 |
| 英文关键词: Chromosome aberrations Achondroplasia Thickening of ligamentum flavum Vertebral stenosis Fibroblast factor 3 Gene mutation |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| Objective To explore the clinical manifestations of a child with achondroplasia (ACH) complicated with hypertrophy ofligamenta flandum,and to perform a genetic test of a child and family members.Methods A child with achondroplasia (ACH), who wasadmitted to Weifang People's Hospital in August 2023,peripheral venous blood samples (5 mL each) were collected from the child andthe 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 Sangersequencing 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 exon10 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. |
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