Indian pediatrics · 2016
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sharma Anjali, Poddar Ujjal, Agnihotry Shikha, Aggarwal Rakesh
Аннотация
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.
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.