E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report
Online Published: 05 May 2020
 


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

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


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.

Key words: Liver disease, case report, novel mutation, progressive familial intrahepatic cholestasis


 
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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: November 14, 2024]. 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 November 14, 2024]; 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





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