Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation
Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation
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DOI：
10.1002/pd.5320
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发表时间：
2018-09-01
影响因子：
3
通讯作者：
Martinovic, Jelena
中科院分区：
文献类型：
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作者：
Bouchghoul, Hanane;Quelin, Chloe;Martinovic, Jelena
我们报告了一个携带GATA1基因突变的多胎家系，导致36周时发生大量胎儿脑出血。另外两名死产表亲在妊娠37周和12周时出现胎儿积水和先天性血色沉着症的表型。分子筛查发现GATA1基因第4外显子存在C.613G>；A致病等位基因变异。GATA1基因突变的诊断可能在有脑出血的男性胎儿的病例中被怀疑，特别是如果既往有胎儿丧失(ES)和轻度母体血小板减少的病史。
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present.