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一例Mowat-Wilson综合征胎儿的产前诊断 被引量:1

Prenatal diagnosis of a fetus with Mowat-Wilson syndrome
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摘要 目的探讨Mowat-Wilson综合征(Mowat-Wilson syndrome,MWS)的临床特点及遗传学病因.方法结合常规染色体G显带分析及单核苷酸多态性微阵列技术进行分子细胞遗传学检测,并进行全基因组拷贝数变异分析.结果胎儿染色体2q22.2-q22.3区域存在约3.8 Mb大小的缺失,且涉及该综合征的已知关键致病基因ZEB2,胎儿携带该缺失与Mowat-Wilson综合征高度相关.结论由于产前超声提示MWS相关表型有限,临床上较易造成漏诊,而ZEB2基因的半剂量不足是导致MWS的重要遗传学病因. Objective To explore the genetic basis for a fetus featuring increased nuchal thickness.Methods Routine G-banding karyotyping and single nucleotide polymrophism array were carried out to detect genomic copy number variations(CNVs)in the fetus.Results The fetus was found to harbor a heterozygous 3.8 Mb deletion in the 2q22.2-q22.3 region encompassing the ZEB2 gene,which is closely associated with Mowat-Wilson syndrome(MWS).Conclusion Haploinsufficiency of the ZEB2 gene may predispose to MWS.Lack of knowledge regarding to the ultrasonographic features of MWS may lead to misdiagnosis of the syndrome.
作者 胡蓉 罗晓辉 李怡 卢建 黄伟伟 Hu Rong;Luo Xiaohui;Li Yi;Lu Jian;Huang Weiwei(Medical Genetics Center,Guangdong Women and Children Hospital,Guangzhou,Guangdong 511400,China)
出处 《中华医学遗传学杂志》 CAS CSCD 2019年第12期1203-1205,共3页 Chinese Journal of Medical Genetics
关键词 单核苷酸多态性微阵列技术 Mowat-Wilson综合征 拷贝数变异 Single nucleotide polymorphism array Mowat-Wilson syndrome Copy number variation
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