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

Ida Vogel; Peter Ott; Dorte Lildballe; Stephen Hamilton-Dutoit; Hendrik Vilstrup; Henning Grønbæk

doi:10.1002/ccr3.981

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

Ida Vogel, Peter Ott, Dorte Lildballe, Stephen Hamilton-Dutoit, Hendrik Vilstrup, Henning Grønbæk

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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.

Original language	English
Journal	Clinical Case Reports
Volume	5
Issue	7
Pages (from-to)	1098-1102
Number of pages	5
ISSN	2050-0904
DOIs	https://doi.org/10.1002/ccr3.981
Publication status	Published - Jul 2017

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10.1002/ccr3.981

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title = "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.",

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Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. / Vogel, Ida ; Ott, Peter ; Lildballe, Dorte et al.
In: Clinical Case Reports, Vol. 5, No. 7, 07.2017, p. 1098-1102.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Isolated congenital hepatic fibrosis associated with TMEM67 mutations

T2 - report of a new genotype-phenotype relationship

AU - Vogel, Ida

AU - Ott, Peter

AU - Lildballe, Dorte

AU - Hamilton-Dutoit, Stephen

AU - Vilstrup, Hendrik

AU - Grønbæk, Henning

PY - 2017/7

Y1 - 2017/7

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1002/ccr3.981

DO - 10.1002/ccr3.981

M3 - Journal article

C2 - 28680603

SN - 2050-0904

VL - 5

SP - 1098

EP - 1102

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 7

ER -

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

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