产前诊断CTNNB1基因移码变异致小头畸形1例  

Prenatal diagnosis of microcephaly due to CTNNB1 frameshift variation:a case report

作　　者：李海玉 田伟芳[1] 董艳华 王阳阳 王涵铎 彭佳 杨波 崔雪崟 崔世红[1] 刘灵[1] Li Haiyu;Tian Weifang;Dong Yanhua;Wang Yangyang;Wang Handuo;Peng Jia;Yang Bo;Cui Xueyin;Cui Shihong;Liu Ling(Medical Genetic and Prenatal Diagnosis Center,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China;Department of Ultrasonography,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China;Department of Medical Imaging,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China;Department of Obstetrics and Gynecology,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学第三附属医院医学遗传与产前诊断中心,郑州450000 [2]郑州大学第三附属医院超声科,郑州450000 [3]郑州大学第三附属医院医学影像科,郑州450000 [4]郑州大学第三附属医院妇产科,郑州450000

出　　处：《中华围产医学杂志》2024年第5期417-420,共4页Chinese Journal of Perinatal Medicine

基　　金：河南省医学科技攻关计划 (LHGJ20190368)。

摘　　要：本文报道了1例产前超声提示头围偏小的胎儿,经家系全外显子组测序诊断为神经发育障碍伴痉挛性双侧瘫痪和视力缺陷的病例。孕妇孕33周+5产前超声提示胎儿头围偏小(-2.61SD)且羊水过少。家系全外显子组测序检出胎儿CTNNB1基因(NM_001904.4)c.1623_1624insA(p.R542Tfs*30)移码变异,父母无表型也未检出相应基因变异,提示该变异为新发。结合临床表现,诊断胎儿为神经发育障碍伴痉挛性双侧瘫痪和视力缺陷。经遗传咨询,孕妇选择终止妊娠。This article reported a case of neurodevelopmental disorder accompanied by spastic diplegia and visual impairment with the manifestation of small fetal head circumference.Prenatal ultrasonography performed at 33+5 weeks of pregnancy revealed small fetal head circumference(-2.61SD)and oligohydramnios.Whole-exome sequencing identified a heterozygous frameshift variation of c.1623_1624insA(p.R542Tfs*30)in the CTNNB1 gene(NM_001904.4)of the fetus.No phenotypic abnormalities or corresponding gene variations were detected in the parents,suggesting it was a de novo variation.Based on the clinical manifestations,the fetus was diagnosed with a neurodevelopmental disorder accompanied by spastic diplegia and visual defects.Following genetic counseling,the pregnant woman chose to terminate the pregnancy.

关 键 词：小头畸形 神经发育障碍 全外显子组测序 遗传变异 产前诊断 

分 类 号：R714.53[医药卫生—妇产科学]