Case Report
Volume: 3 | Issue: 1 | Published: May 05, 2020 | Pages: 32 - 35 | DOI: 10.24911/JBCGenetics/183-1581434307
Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)
Authors: Nida Mirza , Ravi Bharadwaj , Smita Malhotra , Anupam Sibal
Article Info
Authors
Nida Mirza
Fellow in Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
Ravi Bharadwaj
Attending Consultant Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
Smita Malhotra
Consultant Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
Anupam Sibal
Senior Consultant Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
Publication History
Received: January 01, 1970
Revised: March 08, 2020
Accepted: April 07, 2020
Published: May 05, 2020
Abstract
Background: Progressive familial intrahepatic cholestasis (PFIC) is a group of heterogeneous autosomal recessive disorders attributed to hepatocellular cholestasis, characterized by low serum γ-glutamyl transferase (GGT) levels due to mutation in ATP8B1. Case Presentation: We present a case of 2-year-old male child who experienced persistent marked pruritus, jaundice, and failure to thrive since 3 months of age. He was diagnosed as PFIC on the basis of histology, biochemical, and clinical finding. On genetic analysis by next generation sequencing, a novel homozygous missense variation in exon 19 of the ATP8B1 gene [chr18:g.55335672C>T; Depth: 71x] resulting in the amino acid substitution of Glutamic acid for Glycine at codon 733 [p.Gly733Glu;ENST00000536015.1], which was confirmed by sanger sequencing of parents. Conclusion: We report a case of PFIC type 1 with a novel homozygous missense variation in exon 19 of the ATP8B1 gene with both mother and father as heterozygous carrier. Further confirmation of this variant in ATP8B1 mutation will occur by identification of similar phenotypes with similar mutation.
Keywords: Liver disease, case report, novel mutation, progressive familial intrahepatic cholestasis
