Case Report
JBCGenetics. 2020; 3(1): 32-35

Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)

Authors: Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1581434307

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


Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@jbcgenetics.com.

Copyright ©2020. All Rights Reserved.

Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)


Authors
Nida Mirza
Fellow in Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
PubMed articlesGoogle scholar articles

Ravi Bharadwaj
Attending Consultant Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
PubMed articlesGoogle scholar articles

Smita Malhotra
Consultant Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
PubMed articlesGoogle scholar articles

Anupam Sibal
Senior Consultant Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
PubMed articlesGoogle scholar articles


Correspondence to:
. Nida Mirza, Fellow in Pediatric Gastroenterology Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India.; nydamirza.1@gmail.com

Publication history
Revised 08 Mar 2020
Accepted 07 Apr 2020
Published online 05 May 2020
Published in print 27 May 2020

How to cite this article

Pubmed Style

Mirza N, Bharadwaj R, Malhotra S, Sibal A. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBCGenetics. 2020; 3(1): 32-35. doi:10.24911/JBCGenetics/183-1581434307


Web Style

Mirza N, Bharadwaj R, Malhotra S, Sibal A. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). https://www.jbcgenetics.com//?mno=302645246 [Access: October 27, 2020]. doi:10.24911/JBCGenetics/183-1581434307


AMA (American Medical Association) Style

Mirza N, Bharadwaj R, Malhotra S, Sibal A. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBCGenetics. 2020; 3(1): 32-35. doi:10.24911/JBCGenetics/183-1581434307


Vancouver/ICMJE Style

Mirza N, Bharadwaj R, Malhotra S, Sibal A. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBCGenetics. (2020), [cited October 27, 2020]; 3(1): 32-35. doi:10.24911/JBCGenetics/183-1581434307


Harvard Style

Mirza, N., Bharadwaj, . R., Malhotra, . S. & Sibal, . A. (2020) Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). JBCGenetics, 3 (1), 32-35. doi:10.24911/JBCGenetics/183-1581434307


Turabian Style

Mirza, Nida, Ravi Bharadwaj, Smita Malhotra, and Anupam Sibal. 2020. Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). Journal of Biochemical and Clinical Genetics, 3 (1), 32-35. doi:10.24911/JBCGenetics/183-1581434307


Chicago Style

Mirza, Nida, Ravi Bharadwaj, Smita Malhotra, and Anupam Sibal. "Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)." Journal of Biochemical and Clinical Genetics 3 (2020), 32-35. doi:10.24911/JBCGenetics/183-1581434307


MLA (The Modern Language Association) Style

Mirza, Nida, Ravi Bharadwaj, Smita Malhotra, and Anupam Sibal. "Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)." Journal of Biochemical and Clinical Genetics 3.1 (2020), 32-35. Print. doi:10.24911/JBCGenetics/183-1581434307


APA (American Psychological Association) Style

Mirza, N., Bharadwaj, . R., Malhotra, . S. & Sibal, . A. (2020) Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1). Journal of Biochemical and Clinical Genetics, 3 (1), 32-35. doi:10.24911/JBCGenetics/183-1581434307


Click the icon of the social media platform on which you would like to share this article.