title: A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
abstract: BACKGROUND
  Progressive familial intrahepatic cholestasis has been only infrequently reported from India.
  
  
  METHODS
  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.
  
  
  METHODS
  A novel, homozygous mutation (c.[589_592inv;592_593insA]) in ATP8B1 gene, with a markedly truncated protein (p.[Gly197LeufsTer10]) was found.
  
  
  CONCLUSIONS
  The novel mutation found expands the spectrum of genetic variations associated with progressive familial intrahepatic cholestasis.
authors.affiliation: 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.
authors.forename: Anjali
authors.initials: A
authors.lastname: Sharma
authors.forename: Ujjal
authors.initials: U
authors.lastname: Poddar
authors.forename: Shikha
authors.initials: S
authors.lastname: Agnihotry
authors.forename: Rakesh
authors.initials: R
authors.lastname: Aggarwal
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*
chemical_list: D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human