1例新生儿PURA综合征的临床与遗传学分析  

Clinical and genetic analysis of a case of neonate PURA syndrome

作　　者：朱法荣[1] 李晓梅[1] 刘晨[1] 韩玉杰 杨春[2] 陈萌萌 ZHU Farong;LI Xiaomei;LIU Chen;HAN Yujie;YANG Chun;CHEN Mengmeng(Department of Neonatology,Children’s Hospital Affiliated to Shandong University,Shandong Province,Jinan 252000,China;Department of Laboratory,Children’s Hospital Affiliated to Shandong University,Shandong Province,Jinan 252000,China)

机构地区：[1]山东大学附属儿童医院新生儿科,山东济南252000 [2]山东大学附属儿童医院检验科,山东济南252000

出　　处：《妇儿健康导刊》2023年第15期88-90,F0003,F0004,共5页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：新生儿PURA综合征是一种罕见的常染色体显性遗传病,临床表现缺乏特异性。本文收集1例患儿的临床及实验室检查资料,利用Illumina二代测序平台,使用xGen®Exome Research Panel杂交捕获人类全部基因的外显子区及相邻内含子区域,应用高通量测序仪进行测序,最后进行Sanger验证。发现5号染色体PURA基因的1号外显子存在一个自发的整码杂合变异c.697_699del(p.F233del),根据美国医学遗传学与基因组学学会标准,为致病性整码突变。经检索多个数据库报道罕见,进一步丰富了本病的数据库,拓宽临床医师对于自发基因突变疾病的诊断思路。Neonatal PURA syndrome is a rare autosomal dominant inheritance disease with no specific symptoms.In this paper,the clinical and laboratory examination data of a child were collected.Based on Illumina next-generation sequencing platform,high-throughput sequencing was performed using exome targeted capture combined with xGen®Exome Research Panel.The whole exons and adjacent introns were analyzed intensively.Sanger verification was performed for the parents.A heterozygous mutation c.697_699del(p.F233del)of PURA gene was found on chromosome 5,which was de novo codon mutation.According to American College of Medical Genetics and Genomics,this was pathogenic and novel mutation that rare report was retrieved after searching several databases.The mutation enriched the PURA gene database and broadened the diagnosis thinking for clinical pediatricians.

关 键 词：PURA基因 新突变 整码突变 致病性 新生儿 

分 类 号：R722.11[医药卫生—儿科]