Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo
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引用次数: 12
Abstract
Background: 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.
Case presentation: 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.
Conclusion: These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.
期刊介绍：
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.
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