ATL1基因新发突变引发遗传性痉挛性截瘫1例家系分析
Genetic analysis of a new mutation in the ATL1 gene of an inherited spastic paraplegia type 3A family
祁俏英 1王三萍1
作者信息
- 1. 甘肃省人民医院儿科,甘肃兰州 730000
- 折叠
摘要
目的 分析1个遗传性痉挛性截瘫3A型家系患者的ATL1基因变异,为产前诊断、基因咨询提供依据.方法 抽取患儿及其家系的静脉血样提取DNA,采用全外显子测序技术进行基因检测及变异位点致病性分析,针对变异位点对该家系成员和对可疑致病性变异位点进行家系内Sanger验证.结果 该3代家系共有2例患者,先证者4岁患儿,临床表现以运动发育迟缓、肌张力增高为主的痉挛性截瘫,先证者母亲具有相似临床表现,其余成员无明显异常.先证者检测到ATL1基因c.756C＞G杂合变异,关联疾病为常染色体显性痉挛性截瘫3型.经家系验证其母亲携带该变异,其外祖母、外祖父、父亲、舅舅未见异常.结论 患儿及母亲临床特征及ATL1基因突变符合典型的单纯型遗传性痉挛性截瘫3A型特征,ATL1基因突变位点c.756C＞G杂合变异可能为致病性变异,新变异的发现为基因变异谱及产前诊断提供依据.
Abstract
Objective To analyze the ATL1 gene variation in a family with hereditary spastic paraplegia type 3A,so as to provide basis for prenatal diagnosis and gene counseling.Methods DNA was extracted from venous blood samples of children and their families.Whole exon sequencing technique was used to detect the gene and analyze the pathogenicity of the variation sites.The family members and suspected pathogenicity sites were verified by intra-family Sanger.Results There were 2 patients in the three generations of pedigrees,the proband was 4 years old,and the clinical manifestations were spastic paraplegia with motor retardation and increased muscle tone.The mother of the proband had similar clinical manifestations,and the other members had no obvious abnormality.The proband detected the heterozygous variation of ATL1 gene c.756C＞G,and the associated disease was autosomal dominant spastic paraplegia type 3.It was verified by the pedigree that his mother carried the mutation,and her grandfather,grandmother,father and uncle were normal.Conclusion The clinical characteristics and ATL1 gene mutation of children and mothers are consistent with the typical 3 A characteristics of simple hereditary spastic paraplegia.The heterozygous variation of ATL1 gene mutation site c.756C＞G may be pathogenic variation.The discovery of new variation provides a basis for gene variation spectrum and prenatal diagnosis.
关键词
遗传性痉挛性截瘫/ATL1基因/基因突变Key words
hereditary spastic paraplegia/ATL1 gene/gene mutation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据