新生儿PAK3基因新发突变致X连锁神经发育异常1例  

X-linked neurological dysplasia caused by a new mutation of the PAK3 gene in a newborn

作　　者：叶超群 史乐洋 代青梅 李先红 王燕[1] 高丁 胡俊 黄会芝[1] Ye Chaoqun;Shi Leyang;Dai Qingmei;Li Xianhong;Wang Yan;Gao Ding;Hu Jun;Huang Huizhi(The Fifth Clinical College of Anhui Medical University,Department of Neonatology,Anhui Provincial Children′s Hospital,Hefei 230051,China;Department of Neurology,Anhui Provincial Children′s Hospital,Hefei 230051,China;Department of Image,Anhui Provincial Children′s Hospital,Hefei 230051,China)

机构地区：[1]安徽医科大学第五临床医学院/安徽省儿童医院新生儿科,合肥230051 [2]安徽省儿童医院神经内科,合肥230051 [3]安徽省儿童医院影像科,合肥230051

出　　处：《中华实用儿科临床杂志》2023年第12期941-943,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：安徽省儿童医院青年科技人才项目(20etyy002);安徽医科大学校基金项目(2020xkj253)。

摘　　要：回顾性分析2021年11月11日安徽省儿童医院新生儿科确诊的1例PAK3基因变异致新生儿神经行为发育异常及脑损伤患儿的临床资料,分析其临床表型及基因突变特点,并复习相关文献。患儿,男,9日龄,因"出生后不能撤机9 d"入院。患儿病程中有反复惊跳,四肢肌张力减低,原始反射部分引出。振幅整合脑电图提示:下边界10μV,上边界40μV,未见明显成熟睡眠觉醒周期,可见2次电发作,印象:中重度异常振幅整合脑电图。头颅磁共振成像提示胼胝体变薄。家系增强加深全外显子/全基因组测序发现新生儿PAK3基因新发位点[c.1327(exon18)G>A,p.G443R]的错义突变。国内外未见文献报道,本病例丰富了PAK3基因突变的临床表型,并提示全基因组测序在临床诊断和遗传基因指导中的潜在价值。The clinical features,examination findings and genetic testing results of a newborn with neurobehavioral developmental abnormality caused by the PAK3 gene mutation in the Department of Neonatology,Anhui Provincial Children′s Hospital were retrospectively analyzed in November 11,2021.The male 9-day-old newborn presented with the difficult-to-wean for 9 days after birth.The child had repeated startle reflexes,decreased muscle tension in the extremities,and partial primitive reflexes.Amplitude-integrated electroencephalogram(aEEG)showed the lower and upper boundary voltage of 10μV and 40μV,respectively.Obvious mature sleep-wake cycles were not found,and 2 electric seizures were recorded.The aEEG suggested the moderate-to-severe abnormal aEEG.Magnetic resonance imaging showed that the corpus callosum was slightly thinner.The family-centered diagnostic exosome sequencing showed a missense mutation of the PAK3 gene[c.1327(exon18)G>A,p.G443R],which has not been previously reported at home and abroad.This case enriched the clinical phenotype of the PAK3 gene mutation and suggested the potential value of whole genome sequencing in clinical diagnosis and genetic guidance.

关 键 词：PAK3基因 X连锁神经发育异常 全基因组测序 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]