新生儿ANK3基因突变致先天发育异常1例  

A case report of congenital dysplasia caused by the ANK3 gene mutation in the newborn

作　　者：牟鑫[1] 王又平 冯晋楠 武辉[1] Mu Xin;Wang Youping;Feng Jinnan;Wu Hui(Department of Neonatology,the First Hospital of Jilin University,Changchun 130000,China)

机构地区：[1]吉林大学第一医院新生儿科,长春130000

出　　处：《中华实用儿科临床杂志》2022年第7期543-545,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：对吉林大学第一医院新生儿科2019年5月确诊的1例伴ANK3基因杂合突变的先天发育异常患儿的临床资料进行回顾性分析。患儿,女,10 min,因"出生窒息,复苏后10 min"就诊,患儿呈特殊外貌,自主呼吸少,无吞咽功能,肌张力极低,原始反射未引出,振幅整合脑电图(aEEG)提示暴发抑制(BS)背景活动,BS(+),下边界2μV,上边界50μV,无睡眠觉醒周期,未见惊厥发作,原始脑电图暴发段见较多机械样刷,印象:重度异常aEEG。采用高通量测序基因检测发现患儿基因存在ANK3基因c.4183(exon33)C>G及c.8239(exon37)C>T杂合突变,均未见报道。本病例丰富了ANK3基因突变的临床表型,有利于对该基因的认识与研究。The clinical features,examination findings and gene results of the newborn diagnosed with congenital dysplasia by the ANK3 gene heterozygous mutation in the First Hospital of Jilin University were retrospectively analyzed.A female newborn at 10 minutes presented for postnatal asphyxia and 10 minutes after resuscitation.She had a special appearance,with little spontaneous breathing,no swallowing,extremely low muscular tension,and no primal reflexes.Amplitude integrated electroencephalogram(aEEG)suggested the burst suppression(BS)background activity,BS(+),lower boundary at 2μV,upper boundary at 50μV,no sleep awakening cycle,no convulsive seizure,and mechanical brush seen in the original electroencephalogram burst.Severe abnormal aEEG was detected.Gene results suggested 2 heterozygous mutations in the ANK3 gene[c.4183(exon33)C>G and c.8239(exon37)C>T],which have not been previously reported.This case report for the first time reported the clinical phenotype of the ANK3 gene mutation in the newborn with congenital dysplasia.

关 键 词：先天发育异常 ANK3基因 常染色体隐性精神智力发育迟滞37型 婴儿 新生 基因突变 

分 类 号：R722.1[医药卫生—儿科]