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

Open access Creative Commons License

Pubmed Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBC Genetics. 2020; 05 (May 2020): 32-35. doi:10.24911/JBCGenetics/183-1581434307

Web Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). https://www.jbcgenetics.com/articles/2149 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1581434307

AMA (American Medical Association) Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBC Genetics. 2020; 05 (May 2020): 32-35. doi:10.24911/JBCGenetics/183-1581434307

Vancouver/ICMJE Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBC Genetics. (2020), [cited April 27, 2025]; 05 (May 2020): 32-35. doi:10.24911/JBCGenetics/183-1581434307

Harvard Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal (2020) Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBC Genetics, 05 (May 2020): 32-35. doi:10.24911/JBCGenetics/183-1581434307

Chicago Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal. "Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)." 05 (2020), 32-35. doi:10.24911/JBCGenetics/183-1581434307

MLA (The Modern Language Association) Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal. "Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)." 05.May 2020 (2020), 32-35. Print. doi:10.24911/JBCGenetics/183-1581434307

APA (American Psychological Association) Style

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal (2020) Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). , 05 (May 2020), 32-35. doi:10.24911/JBCGenetics/183-1581434307