进行性家族性肝内胆汁淤积症中ATP8B1基因的一种新型截断突变
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
作者信息
Sharma Anjali, Poddar Ujjal, Agnihotry Shikha, Aggarwal Rakesh
机构信息
Department of Gastroenterology, #Department of Pediatric Gastroenterology, and $Biomedical Informatics Centre, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Correspondence to: Dr Rakesh Aggarwal, Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India.
出版信息
Indian Pediatr. 2016 Dec 15;53(12):1099-1101.
BACKGROUND
Progressive familial intrahepatic cholestasis has been only infrequently reported from India.
CASE CHARACTERISTICS
An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome.
OBSERVATION
A novel, homozygous mutation (c.[589_592inv;592_593insA]) in ATP8B1 gene, with a markedly truncated protein (p.[Gly197LeufsTer10]) was found.
MESSAGE
The novel mutation found expands the spectrum of genetic variations associated with progressive familial intrahepatic cholestasis.
背景
进行性家族性肝内胆汁淤积症在印度仅有罕见报道。
病例特征
一名印度女孩，婴儿期起病，患有进行性胆汁淤积性肝病，γ-谷氨酰转肽酶水平正常，父母近亲结婚，家族史阳性，结局为死亡。
观察结果
发现ATP8B1基因存在一种新的纯合突变（c.[589_592inv;592_593insA]），其蛋白质明显截短（p.[Gly197LeufsTer10]）。
信息
发现的这种新突变扩展了与进行性家族性肝内胆汁淤积症相关的基因变异谱。
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