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Title Page

Case Report

Online Publishing Date:
05 / 05 / 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: March 13, 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 March 13, 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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