新生儿血小板减少症常见于新生儿重症监护病房的早产儿和足月儿。新生儿血小板减少症的病因复杂。遗传性血小板减少症很少见，通常由基因突变引起。
在这里，我们报告了一例在新生儿期出现的患有严重遗传性血小板减少症的双胞胎，这些双胞胎被证明是2个UDP-N-乙酰葡糖胺2-差向异构酶（GNE）基因突变的复合杂合子，c.1351C>T和c.1330G>T，其中c.1330G>T是一种新的突变。
这两个GNE突变可能有助于新生儿血小板减少症的诊断和治疗。
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.
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