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

被引：14

作者：

Li, Xin ^{[1
,2
]}

Li, Ying ^{[1
]}

Lei, Min ^{[1
]}

Tian, Jing ^{[1
]}

Yang, Zuocheng ^{[1
]}

Kuang, Shoujin ^{[1
]}

Tan, Yanjuan ^{[1
]}

Bo, Tao ^{[1
]}

机构：

[1] Cent South Univ, Xiangya Hosp 3, Dept Pediat, Tongzipo Rd 138, Changsha 410013, Peoples R China

[2] Univ Elect Sci & Technol China, Sch Med, Chengdu Womens & Childrens Cent Hosp, Chengdu 611731, Sichuan, Peoples R China

来源：

BMC MEDICAL GENETICS | 2020年 / 21卷 / 01期

关键词：

Congenital thrombocytopenia; UDP-N-acetyl-glucosamine; 2-epimerase; N-acetylmannosamine kinase (GNE); Sialic acid; Neonates; Twins; UDP-GLCNAC; 2-EPIMERASE; DISTAL MYOPATHY; PHENOTYPE; DMRV;

D O I：

10.1186/s12881-020-01163-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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