Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.

中文翻译：

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双胞胎姐妹先天性血小板减少与GNE突变相关：病例报告和文献复习

新生儿血小板减少症在新生儿重症监护病房的早产和足月新生儿中很常见。新生儿血小板减少症的病因很复杂。遗传性血小板减少症很少见，通常是由基因突变引起的。在这里，我们报告一例双胞胎，在新生儿期出现严重的遗传性血小板减少症，被证明是2个UDP-N-乙酰氨基葡糖胺2-表异构酶（GNE）基因突变的复合杂合子，c.1351C> T和c.1330G> T ，其中c.1330G> T是一个新的突变。这两个GNE突变可能有助于诊断和处理新生儿诊断出的血小板减少症。