ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.

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.