ANK1基因突变导致遗传性球形红细胞增多症1例报告
A case report of hereditary spherocytosis due to mutation in ANK1 gene
王红艳 1陈锡龙 2王鑫 1王卫凯3
作者信息
- 1. 甘肃中医药大学第一临床医学院,甘肃兰州 730030
- 2. 甘肃省妇幼保健院儿童急救中心,甘肃兰州 730050
- 3. 甘肃中医药大学第一临床医学院,甘肃兰州 730030;甘肃省妇幼保健院儿童急救中心,甘肃兰州 730050
- 折叠
摘要
目的 遗传性球形红细胞增多症(HS)是一组遗传异质性疾病,其突变基因型较多,本文旨在加深对HS相关基因突变的理解,包括ANK1、SPTA1、SPTB、SLC4A1和EPB42基因等.方法 回顾性分析1例经基因检测发现ANK1突变的HS患儿的临床资料,并学习相关文献.结果 经Sanger测序验证,患儿所携带的c.3179C＞T(p.Pro1060Leu)变异为ANK1基因编码区错义突变.染色体位置为:chr8:41552258,合子类型为杂合,该变异遗传自其父亲.本例患儿的各项临床表现符合HS,该位点变异为新发现的突变,目前尚未在人类基因组突变数据库(HGMD)查询到报道.结论 本例患儿符合HS的临床特点,新发现的ANK1基因突变可能是致病原因,这对于解释HS的发病机制及补充ANK1的突变谱起着重要作用,基因检测可协助诊断HS.
Abstract
Objective Hereditary spherocytosis(HS)is a genetically heterogeneous group of disorders with a large number of mutant genotypes,and the aim of this paper is to deepen the understanding of HS-associated mutations,including ANK1,SPTA1,SPTB,SLC4A1 and EPB42 genes,et al.Methods We retrospectively analyzed the clinical data of a child with HS who was found to have an ANK1 mutation by genetic testing,and studied the relevant literature.Results The c.3179C＞T(p.Pro1060Leu)variant carried by the affected child was verified by Sanger sequencing as a missense mutation in the cod-ing region of the ANK1 gene.The chromosomal location was chr8:41552258.The type of consortium was heterozygous,and the variant was inherited from his maternal grandparent.The clinical manifestations of this child are consistent with HS,and this locus is a newly identified mutation that has not yet been reported in the Human Genome Mutation Database(HGMD).Conclusion This case is consistent with the clinical features of HS,and the newly discovered mutation in the ANK1 gene may be the cause of the disease,which plays an important role in explaining the pathogenesis of HS and in supplementing the mutation spectrum of ANK1,and the genetic test may assist in the diagnosis of HS.
关键词
遗传性球形红细胞增多症/基因突变/ANK1Key words
hereditary spherocytosis/gene mutation/ANK1引用本文复制引用
基金项目
甘肃省省级科技计划(科技重大专项)项目(22ZD6FA034)
出版年
2024
NETL
NSTL
万方数据