一例Mowat-Wilson综合征胎儿的产前诊断

Prenatal diagnosis of a fetus with Mowat-Wilson syndrome

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.