新生儿PURA综合征1例报告

PURA syndrome:A neonatal case report

目的探究PURA基因变异导致新生儿PURA综合征的临床特点及发病机制。方法回顾性分析1例足月新生儿PURA综合征的临床表现、诊疗经过和遗传学检测结果,并复习文献,通过采集患儿及父母的外周血提取DNA进行三人家系全外显子测序,并对三人进行了Sanger验证。结果该新生儿以肌张力降低、喂养困难、反复肺部感染、离氧困难为主要特征,随访6个月后,肌张力仍偏低。家系增强全外显子组遗传疾病检测报告:PURA基因存在1个杂合致病变异:PURA(NM_005859.5):c.700del(p.Asp234MetfsTer13),该新发移码突变经过ACMG评级之后认为是“致病性”。结论患儿因PURA基因突变导致PURA综合征,本研究为同类患儿的诊断和家庭的健康生育提供了临床依据。

Objective To explore the clinical manifestations and pathogenesis of the neonate’s PURA syndrome caused by PURA gene.Methods Analyzed retrospectively the clinical manifestations,the diagnosis process and the genetic results of the PURA syndrome of a full term neonate,collected peripheral blood from the neonate and the parents for DNA testing,performed the whole exome sequencing on the neonate and the parents and then verified by the Sanger sequencing.Results The results showed that the main symptoms of the newborn were hypotonia,feeding difficulty,recurrent pulmonary infection and dyspnea.After 6 months of follow-up,the patient still had hypotonia.The report of the whole exome sequencing of the family was as follows:There was a heterozygous pathogenic mutation in the PURA gene:NM_005855.5:c.700del(p.Asp234MetfsTer13),a frame-shifting mutation was diagnosed as PURA syndrome by ACMG guideline.Conclusion This mutation of PURA gene was the pathogenic cause of the neonate,which provides a clinical basis for the diagnosis and the healthy fertility of the family.