1例 OTUD5基因无义变异导致X连锁多发性先天畸形- 神经发育综合征胎儿的遗传学分析
Chinese Journal of Perinatal Medicine(2023)
Abstract
本文报道了1例胎儿超声心动图诊断为复杂心脏畸形,引产后全外显子组测序-Sanger测序诊断为X连锁多发性先天畸形-神经发育综合征。孕妇孕17周 +4胎儿超声心动图检查提示胎儿肺动脉闭锁伴室间隔缺损。经多学科会诊咨询后,夫妇决定终止妊娠,并接受遗传学检测。取引产胎儿脐带及父母外周血行全外显子组测序及Sanger测序验证,证实胎儿存在 OTUD5基因半合子无义变异(NM_017602.3:c.1651C>T,p.Gln551*),遗传自母亲,为可能致病变异,诊断为X连锁多发性先天畸形-神经发育综合征。
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Key words
Heart defects, congenital,Neurodevelopmental disorders,Ultrasonography, prenatal,Endopeptidases,Genetic variation
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