Novel Mutations in the 3β-hydroxy-A5-C27-steroid Dehydrogenase Gene （HSD3B7）in a Patient with Neonatal Cholestasis  

作　　者：He-Yu Huang Hua Zhou Hong Wang Ya-Xian Chen Feng Fang 

机构地区：[1]Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China [2]Department of Internal Medicine, Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China

出　　处：《Chinese Medical Journal》2016年第1期98-100,共3页中华医学杂志（英文版）

摘　　要：Bile acid synthetic defect （BASD） is a rare category of genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants. Until date, four enzynles responsible for congenital defects of bile acid synthesis （CBAS） have been identified. 313-hydroxy-A5-C27-steroid dehydrogenase （3β-HSD）, the deficiency of which can cause CBAS 1 （OMIM No. 607765）, is encoded by the gene HSD3B7 and works in the second step of transforming the steroid into primary bile acids.Bile acid synthetic defect （BASD） is a rare category of genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants. Until date, four enzynles responsible for congenital defects of bile acid synthesis （CBAS） have been identified. 313-hydroxy-A5-C27-steroid dehydrogenase （3β-HSD）, the deficiency of which can cause CBAS 1 （OMIM No. 607765）, is encoded by the gene HSD3B7 and works in the second step of transforming the steroid into primary bile acids.

关 键 词：HSD3B7 Mutation Neonatal Cholestasis 

分 类 号：Q581[生物学—生物化学] S562.01[农业科学—作物学]