嘌呤核苷磷酸化酶缺乏症患儿1例的临床及遗传学分析
Clinical and genetic analysis of a child with purine nucleoside phosphorylase deficiency
韩健 1黄颖之 2罗玉琴 2高晓阳 2陈娜 2高婧华 1董旻岳2
作者信息
- 1. 楚雄彝族自治州人民医院精准医学中心,云南楚雄 675000
- 2. 浙江大学医学院附属妇产科医院生殖遗传科,浙江杭州 310006
- 折叠
摘要
目的 本研究旨在探讨1例嘌呤核苷磷酸化酶缺乏症患儿的临床特征与遗传学病因.方法 选取2021年4月至浙江大学医学院附属妇产科医院生殖遗传门诊就诊的1例嘌呤核苷磷酸化酶缺乏症患儿为研究对象.对患儿及父母进行家系全外显子组测序和生物信息学分析,并通过Sanger测序以及SNP-Array进一步验证变异.结果 患儿存在PNP:c.150C＞A变异和14q11.2拷贝数变异的复合杂合变异,Sanger测序和SNP-Array验证了这两个变异分别遗传自患儿的父亲和母亲.此变异类型在gnomAD、ClinVar及HGMD等数据库均未见收录.结论 PNP基因的c.150C＞A变异与14q11.2拷贝数变异形成的复合杂合变异可能是该患儿的遗传学病因.这些发现为患儿父母提供了遗传咨询和产前诊断的依据,并进一步拓宽了PNP基因的变异谱.
Abstract
Objective The objective of this study is to examine the clinical characteristics and genetic etiology of a pediatric patient presenting with purine nucleoside phosphorylase(PNP)deficiency.Methods In April 2021,a patient diag-nosed with PNP deficiency was chosen as the subject of study at the Reproductive Genetics Clinic of Women's Hospital School of Medicine Zhejiang University.The children and their parents underwent family whole exome sequencing and sub-sequent bioinformatics analysis.The identified variants were subsequently confirmed through Sanger sequencing and SNP-Array techniques.Results The complex heterozygous variants,namely the PNP:c.150C＞A variants and the 14q1 1.2 copy number variants,were detected.The confirmation of the inheritance of these two variants was achieved through the utilization of Sanger sequencing and SNP-Array analysis.The results of these analyses indicated that the PNP:c.150C＞A variants were paternally inherited,whereas the 14q1 1.2 copy number variants were maternally inherited.Notably,these variant types were not found in the gnomAD,ClinVar,and HGMD databases.Conclusion The child's genetic etiology can be ascribed to the intricate heterozygous variation resulting from the c.150C＞A variant of the PNP gene and the 14q1 1.2 copy number variation.These discoveries bear noteworthy implications for parental genetic counseling and prenatal diagnosis,while also augmenting the growing repertoire of observed variations in PNP genes.
关键词
PNP基因/嘌呤核苷磷酸化酶缺乏症/复合杂合变异Key words
PNP gene/purine nucleoside phosphorylase deficiency/complex heterozygous variants引用本文复制引用
基金项目
楚雄州人民医院科学研究基金(2021J19)
出版年
2024
NETL
NSTL
万方数据