软骨发育不全1例临床特点及其基因突变分析

张亚妹; 万乃君; 孙慧慧

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武警医学 ›› 2018, Vol. 29 ›› Issue (2) : 159-162.

论著

软骨发育不全1例临床特点及其基因突变分析

张亚妹, 万乃君, 孙慧慧

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Clinical features and FGFR3 gene of a patient with achondroplasia

ZHANG Yamei, WAN Naijun, SUN Huihui

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摘要

目的探讨一例软骨发育不全(achondroplasia, ACH)的临床特点,并检测成纤维细胞生长因子受体3(fibroblast growth factor receptor 3, FGFR3)基因,了解其突变情况。方法收集患儿的临床资料分析其临床特点,提取患儿及其父母外周血DNA,应用遗传性骨病Ⅱ代测序的方法寻找致病基因,进一步采用Sanger测序的方法进行验证。结果遗传性骨病Ⅱ代测序和Sanger测序发现患儿为FGFR3基因1138G＞A杂合突变,而其父母均未发现该突变。结论综合其临床特点及基因学分析,该患儿被诊断为软骨发育不全,C.1138G＞A突变为该病的主要致病基因,基因的检测有助于明确复杂疾病的诊断。

Abstract

Objective To analyze the clinical features of an achondroplasia (ACH) patient and detect the gene mutation of FGFR3.Methods The clinical data was collected to analyze the clinical characteristics.The peripheral blood DNA of the pediatric patient and his parents was extracted, and pathogenic genes were identified using the second-generation sequencing method of hereditary bone disease.After that, the Sanger sequencing method was used for verification.Results The pediatric patient was heterozygous for C.1138G>A mutation as was proven by the second-generation sequencing method and Sanger sequencing method, but no mutation was found in the parents.Conclusions The child is diagnosed with achondroplasia and the C.1138G＞A mutation is the main pathogenesis.The detection of genes helps the diagnosis of complicated diseases.

导出引用

张亚妹, 万乃君, 孙慧慧. 软骨发育不全1例临床特点及其基因突变分析[J]. 武警医学. 2018, 29(2): 159-162

ZHANG Yamei, WAN Naijun, SUN Huihui. Clinical features and FGFR3 gene of a patient with achondroplasia[J]. Medical Journal of the Chinese People Armed Police Forces. 2018, 29(2): 159-162

中图分类号： R681

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