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A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

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.