摘要
目的分析6例复发性17p12区域的微缺失/重复胎儿的临床资料,探讨其致病性、宫内临床表型的相关性及包含基因等,为判断预后提供遗传学依据。方法采用常规G显带和单核苷酸多态性微阵列(single nucleotide polymorphism,SNP array)对2017年1月至2021年12月福建医科大学附属福州市第一医院6例不同产前诊断指征的胎儿羊水进行检测并对其结果进行描述性分析。结果5例孕中期胎儿涉及心脏、大脑、肾脏等系统的超声异常;G显带分析结果显示,6例胎儿染色体核型分析均未见异常;SNP array检测结果显示,6例胎儿在17p12区域存在1.3~1.4 Mb拷贝数变异,涉及PMP22、COX10、HS3ST3B1和TEKT3等4个OMIM基因,17p12区域和PMP22基因具有单倍剂量效应;4例胎儿存在CNV微缺失,2例胎儿存在CNV微重复;其中2例胎儿的变异遗传自无临床表型父亲,1例胎儿是新发变异,其他3例胎儿未进行变异溯源。经遗传咨询后,3例孕妇及家属选择继续妊娠,出生时胎儿情况正常,出生后半年随访婴儿发育良好;1例胎儿早产,出生18个月随访存在三尖瓣轻度反流;2例孕妇及家属选择终止妊娠。结论复发性17p12区域的微缺失/重复胎儿产前缺乏特异性表型,PMP22可能为该区域关键致病基因。
Objective The clinical data of 6 cases of recurrent 17pl2 microdeletion/microduplication fetuses were analyzed in order to explore the relationship between the microdeletion/microduplication and clinical phenotype in utero,including genes and pathogenicity,so as to provide genetic basis for judging the prognosis.Methods Amniotic fluid of 6 fetuses with different indications of prenatal diagnosis in Affliated Fuzhou First Hospital of Fujian Medical University from January 2017 to December 2021 were detected by routine G-banding and single nucleotide polymorphism microarray(SNP array),and the results were descriptively analyzed.Results Five cases of fetal ultrasound abnormalities involving the heart,brain,kidney and other systems in the second trimester;G banding analysis showed that the karyotype analysis of 6 fetuses was normal.The results of SNP array detection showed that 6 fetuses had 1.3~1.4 Mb copy number variation in 17p12 region,which involved four OMIM genes,including PMP22,COX10,HS3ST3B1 and TEKT3;17p12 region and PMP22 gene had haploinfficiency;CNV microdeletions were present in 4 fetuses,CNV microduplications were present in 2 fetuses,of which 2 fetuses were inherited from their father with no clinical phenotype,and 1 fetus was a new variant,the other 3 fetuses were not traced.After genetic counseling,3 pregnant women and their family members chose to continue the pregnancy,the fetus was normal at birth,the baby developed well in the follow-up half a year after birth,1 fetus was premature,and mild tricuspid regurgitation was found in the follow-up 18 months after birth,2 pregnant women and their family members chose to terminate pregnancy.ConclusionPrenatal fetus lack of specific phenotype in recurrent 17p12 region microdeletion/microrepetition;PMP22 may be a key pathogenic gene in this region.
作者
陈敏晖
刘欣茹
黄秀琼
林琴
毛雅珍
Chen Minhui;Liu Xinru;Huang Xiuqiong;Lin Qin;Mao Yazhen(Laboratory,Affiliated Fuzhou First Hospital of Fujian Medical University,Fuzhou Fujian 350009,P.R.China;Department of Obstetrics,Affiliated Fuzhou First Hospital of Fujian Medical University,Fuzhou Fujian 350009,P.R.China)
出处
《中国计划生育和妇产科》
2023年第6期69-71,81,I0002,共5页
Chinese Journal of Family Planning & Gynecotokology
