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

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...

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Detalles Bibliográficos
Autores principales: Vogel, Ida, Ott, Peter, Lildballe, Dorte, Hamilton‐Dutoit, Stephen, Vilstrup, Hendrik, Grønbæk, Henning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494401/
https://www.ncbi.nlm.nih.gov/pubmed/28680603
http://dx.doi.org/10.1002/ccr3.981
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author Vogel, Ida
Ott, Peter
Lildballe, Dorte
Hamilton‐Dutoit, Stephen
Vilstrup, Hendrik
Grønbæk, Henning
author_facet Vogel, Ida
Ott, Peter
Lildballe, Dorte
Hamilton‐Dutoit, Stephen
Vilstrup, Hendrik
Grønbæk, Henning
author_sort Vogel, Ida
collection PubMed
description 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.
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spelling pubmed-54944012017-07-05 Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship Vogel, Ida Ott, Peter Lildballe, Dorte Hamilton‐Dutoit, Stephen Vilstrup, Hendrik Grønbæk, Henning Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-05-23 /pmc/articles/PMC5494401/ /pubmed/28680603 http://dx.doi.org/10.1002/ccr3.981 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Vogel, Ida
Ott, Peter
Lildballe, Dorte
Hamilton‐Dutoit, Stephen
Vilstrup, Hendrik
Grønbæk, Henning
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
title Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
title_full Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
title_fullStr Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
title_full_unstemmed Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
title_short Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship
title_sort isolated congenital hepatic fibrosis associated with tmem67 mutations: report of a new genotype–phenotype relationship
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494401/
https://www.ncbi.nlm.nih.gov/pubmed/28680603
http://dx.doi.org/10.1002/ccr3.981
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