Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship

Abstract

We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.

Keywords: Ciliopathy; TMEM67; congenital hepatic fibrosis; meckelin.