ArticleJPGN reports2024
ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.
Article in JPGN reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- New hope in treating progressive familial intrahepatic cholestasis in children.World journal of hepatology · 2025Review
- Response to "Letter to the Editor in response to: 'ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis'".JPGN reports · 2025Article
- Letter to the Editor in response to: "ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis".JPGN reports · 2025Article
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Authors and funding
5 authors.
Funding
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Abstract
A recent nonsyndromic phenotype, newly linked to mutations in the ZFYVE19 gene, is characterized by the appearance of cholestasis accompanied by an increase in serum gamma-glutamyltranspeptidase (GGT) from infancy or early childhood. Affected individuals generally present with hepatosplenomegaly and may develop portal hypertension. The disease is thought to be the result of cholangiocyte-specific ciliary dysfunction, indicating a ciliopathy that appears to be limited to the liver. Here, we describe the case of an infant born to first-degree consanguineous parents, in whom neonatal cholestasis accompanied by elevated GGT led to the discovery of a ZFYVE19 deficiency. The diagnosis was established following an in-depth analysis of the complete exome sequencing.
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