胎儿脑积水诊断Walker-Warburg综合征一例

doi:10.12280/gjszjk.20230338

摘要/Abstract

摘要：

报道1例二次胎儿脑积水妊娠史的家系，采用单核苷酸多态性微阵列（single nucleotide polymorphism array，SNP array）分析及全外显子组测序（whole-exome sequencing，WES）分析其遗传学病因。SNP array未见胎儿染色体致病性及可能致病性拷贝数变异。WES结果示胎儿POMT2基因的2号外显子存在一个遗传自父亲的可能致病性变异c.287A>G，POMT2基因的13号外显子存在一个遗传自母亲的致病性变异c.1362G>A。基因检测结果提示胎儿为POMT2基因复合杂合变异所致的Walker-Warburg综合征（Walker-Warburg syndrome，WWS）。对于反复胎儿脑积水且染色体未见致病性及可能致病性拷贝数变异的患者，可行家系WES检查以期找到遗传学病因，为再生育的遗传咨询及生育方式的选择提供依据。

关键词: 胎儿, 脑积水, Walker-Warburg综合征, POMT2基因, 产前诊断

Abstract:

A family with a case of two times of fetal hydrocephalus pregnancies was reported. The genetic etiology was analyzed by single nucleotide polymorphism array (SNP array) and whole-exome sequencing (WES). No pathogenic and likely pathogenic copy number variants were found from SNP array. The fetal was found to harbor a likely pathogenic c.287A>G mutation in exon 2 of POMT2 gene from the father and a pathogenic c.1362G>A mutation in exon 13 of POMT2 gene from the mother. The fetal carried the compound heterozygous mutations of POMT2 gene and so was diagnosed with Walker-Warburg syndrome (WWS). For a family with recurrent fetal hydrocephalus while excluding pathogenic and likely pathogenic copy number variants of fetal chromosome, WES is available with a view to identify the genetic etiology and to provid genetic data for reproduction.

Key words: Fetus, Hydrocephalus, Walker-Warburg syndrome, POMT2 gene, Prenatal diagnosis

周佳妍, 董海伟, 史云芳. 胎儿脑积水诊断Walker-Warburg综合征一例[J]. 国际生殖健康/计划生育杂志, 2024, 43(2): 108-110.

ZHOU Jia-yan, DONG Hai-wei, SHI Yun-fang. Fetus with Hydrocephalus and Walker-Warburg Syndrome: A Case Report[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(2): 108-110.

图/表 1

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基因名称	RefGene	变异	GRCh37位置dbSNP	变异类型	遗传方式	基因型	ACMG变异分类	来源
POMT2	NM_013382	c.287A>G p.Y96C	chr14:777 78338 rs748900993	错义突变	常染色体隐性遗传	杂合	可能致病性	父亲
POMT2	NM_013382	c.1362G>A p.W454X	chr14:777 51946	无义突变	常染色体隐性遗传	杂合	致病性	母亲

基因名称	RefGene	变异	GRCh37位置dbSNP	变异类型	遗传方式	基因型	ACMG变异分类	来源
POMT2	NM_013382	c.287A>G p.Y96C	chr14:777 78338 rs748900993	错义突变	常染色体隐性遗传	杂合	可能致病性	父亲
POMT2	NM_013382	c.1362G>A p.W454X	chr14:777 51946	无义突变	常染色体隐性遗传	杂合	致病性	母亲