Department of Gynecology and Obstetrics, Kremlin-Bicêtre Hospital, Kremlin-Bicêtre, France.
University Paris-Sud, Paris, France.
Prenat Diagn. 2018 Sep;38(10):772-778. doi: 10.1002/pd.5320. Epub 2018 Jul 24.
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks 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.
我们报告了一个 GATA1 基因突变的家系，该突变导致一名 36 周胎儿发生大量脑内出血。另外两名表兄弟在妊娠 37 周和 12 周时因胎儿水肿和先天性血色素沉着症表型而死产。分子筛查显示，3 名男性兄弟及其携带母亲的 GATA1 基因外显子 4 中存在 c.613G>A 致病性等位基因突变。如果存在颅内出血的男性胎儿（特别是存在先前胎儿丢失和轻度母体血小板减少症），则可能怀疑存在 GATA1 基因突变。
