先天性血小板减少症与双胞胎姐妹GNE突变相关:1例报告和文献复习。

4区医学 Q4 Medicine BMC Medical Genetics Pub Date : 2020-11-16 DOI:10.1186/s12881-020-01163-2

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

摘要

背景: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新生儿。新生儿血小板减少症的病因是复杂的。遗传性血小板减少症是罕见的，通常是由基因突变引起的。病例介绍:在这里，我们报告了一例新生儿时期出现的严重遗传性血小板减少症双胞胎，他们被证明是2个udp - n -乙酰氨基葡萄糖2- epimase (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。结论:这两种基因突变可能有助于新生儿血小板减少症的诊断和治疗。

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Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.

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.

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来源期刊

BMC Medical Genetics 医学-遗传学

自引率

0.00%

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审稿时长

12 months

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.