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.