J Pediatr Genet 2020; 09(04): 285-288
DOI: 10.1055/s-0039-1700971
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

Mervan Bekdas
1  Department of Pediatrics, Bolu Abant Izzet Baysal University Medical Faculty, Bolu, Turkey
Guray Can
2  Department of Gastroenterology, Bolu Abant Izzet Baysal University Medical Faculty, Bolu, Turkey
Recep Eroz
3  Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey
Selma Erdogan Duzcu
4  Department of Pathology, Bolu Abant Izzet Baysal University Medical Faculty, Bolu, Turkey
› Author Affiliations
Funding None.
Further Information

Publication History

28 August 2019

25 November 2019

Publication Date:
20 January 2020 (online)


Progressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.