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

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › 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.

Originalsprog	Engelsk
Tidsskrift	Clinical Case Reports
Vol/bind	5
Nummer	7
Sider (fra-til)	1098-1102
Antal sider	5
ISSN	2050-0904
DOI	https://doi.org/10.1002/ccr3.981
Status	Udgivet - 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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author = "Ida Vogel and Peter Ott and Dorte Lildballe and Stephen Hamilton-Dutoit and Hendrik Vilstrup and Henning Gr{\o}nb{\ae}k",

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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

Abstract

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