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戈谢病三家系 GBA 基因突变分析#br#

  • 和宁辛 ,
  •  张文乾 ,
  •  张继要 ,
  •  罗强 ,
  •  王浩 ,
  •  赵亚梅 ,
  •  董伟
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  • 1.郑州大学第一附属医院儿科(河南郑州 450000);2.南阳市中心医院儿科(河南南阳 473000)

收稿日期: 2018-06-15

  网络出版日期: 2018-06-15

Analysis of GBA gene mutation in three families with Gaucher disease

  •  HE Ningxin ,
  • ZHANG Wenqian ,
  • ZHANG Jiyao ,
  • LUO Qiang ,
  • WANG Hao ,
  • ZHAO Yamei ,
  • DONG Wei
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  • 1.Department of Pediatrics, The first affiliated hospital of Zhengzhou University, Zhengzhou 450000, Henan, China; 2. Department of Pediatrics, The Center Hospital of Nanyang, Nanyang 473000, Henan, China

Received date: 2018-06-15

  Online published: 2018-06-15

摘要

目的 探讨GBA基因突变及基因检测在戈谢病诊断中的意义。方法 分析3个无血缘关系的戈谢病家系先 证者及其家庭成员的临床资料及基因检测结果。结果 家系1先证者发现c.907C>A与 c.1448T>C的复合杂合突变,分别 遗传自父母;家系2先证者发现c.1174delC与c.1226A>G的复合杂合突变,分别遗传自父母,经HGMD检索,变异c.1174delC 的致病性目前未见有文献报道,为新发现突变;家系3先证者发现c.1342G>C的纯合核苷酸变异与c.1263_1317del的杂 合核苷酸变异,c.1263_1317del杂合突变遗传自父亲。结论 GBA基因突变为3个戈谢病家系的致病原因,临床上可通过 分子遗传学手段进行戈谢病的基因诊断。

本文引用格式

和宁辛 ,  张文乾 ,  张继要 ,  罗强 ,  王浩 ,  赵亚梅 ,  董伟 . 戈谢病三家系 GBA 基因突变分析#br#[J]. 临床儿科杂志, 2018 , 36(6) : 459 . DOI: 10.3969/j.issn.1000-3606.2018.06.014

Abstract

Objective To explore the significance of GBA gene mutation and gene detection in diagnosis of Gaucher disease. Method The clinical data and genetic testing results of 3 probands from 3 unrelated Gaucher families and their family members were analyzed. Results A compound heterozygous mutation of c.907C>A and c.1448T>C was found in the proband of the first family, which was inherited from parents respectively. Another complex heterozygous mutation of c.1174delC and c.1226A>G was found in the proband of second family, which was inherited from parents respectively, and the variant c.1174delC was a new mutation, which has not been reported in the literature according to the search by HGMD. The homozygous nucleotide variation of c.1342G>C and heterozygous nucleotide variation of c.1263_1317del was found in the proband of the third family and the c.1263_1317del heterozygous mutation was inherited from father. Conclusion The mutation of GBA gene was the cause of Gaucher disease in these 3 families and Gaucher disease can be diagnosed by molecular genetics in clinic.
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