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

Anjali Sharma1, Ujjal Poddar, Shikha Agnihotry

  • 1Department 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.

Indian Pediatrics
|January 9, 2017
PubMed

Insights

A rare genetic liver disease, progressive familial intrahepatic cholestasis, was identified in an Indian child. A novel mutation in the ATP8B1 gene was discovered, expanding the known genetic causes of this condition.

Area of Science:

  • Hepatology
  • Genetics
  • Pediatric liver disease

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder affecting bile flow.
  • Cases of PFIC are infrequently reported in India, highlighting a need for more research in the region.

Observation:

  • A case study of an Indian infant with progressive cholestatic liver disease was conducted.
  • The patient presented with a positive family history, parental consanguinity, and normal gamma-glutamyl transpeptidase levels.

Findings:

  • A novel homozygous mutation, c.[589_592inv;592_593insA], was identified in the ATP8B1 gene.
  • This mutation resulted in a markedly truncated protein, p.[Gly197LeufsTer10].

Implications:

  • The discovery of this novel ATP8B1 mutation expands the known spectrum of genetic variations causing PFIC.
  • This finding contributes to a better understanding of the genetic basis of liver disease in the Indian population.
Abstract

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