The identification of a new gene(s) that causes autosomal dominant polycystic liver disease.
ID
Source
Brief title
Condition
- Hepatobiliary disorders congenital
- Hepatic and hepatobiliary disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Identification of the pathogenic variant in PLD related genes in the patient.
Secondary outcome
Not applicable
Background summary
Polycystic liver disease (PLD) is a disorder which is characterized by the
development of numerous fluid-filled cysts in the liver. PLD is a phenotype in
two heritable diseases: autosomal dominant polycystic liver disease and
autosomal dominant kidney disease (ADPLD and ADPKD). In ADPLD patients, only
cysts are present in the liver. In ADPKD patients, numerous cysts are present
in both the liver and the kidney.
ADPKD is nearly always cause by a pathogenic variant in the genes PKD1 (78%),
PKD2 (15%) or GANAB (0.3%). However, ADPLD does not seem to be caused by one or
a few genes. Currently, there are already 6 genes known to be the cause of
ADPLD development: PRKCSH (~20%), SEC63 (~15%), ALG8 (~3%), GANAB (~2%), SEC61B
(~1%), and LRP5 (~1%). However, about 60% of the ADPLD patients do not have a
PLD-causing variant in one of these genes.
Study objective
The identification of a new gene(s) that causes autosomal dominant polycystic
liver disease.
Study design
Dutch ADPLD patients will be selected for our ADPLD cohort based on the
inclusion and exclusion criteria. From the selected patients that are willing
to participate, 1 vial of 10 mL blood will be taken. This blood will be used to
screen the patient for possibly pathogenic variants in genes that could be
PLD-associated by modern genomic techniques like whole exome sequencing. In the
laboratory, the pathogenicity of these variants will be tested by different
functional analyses.
Study burden and risks
Incidental findings (knowledge of being at risk for the development of other
diseases), however the discovery of these incidental findings is extremely
small.
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Listed location countries
Age
Inclusion criteria
Patient has polycystic liver disease (current definition: >10 liver cysts)
Patient has visited our department in regards to polycystic liver disease
Individual is a (healthy) family member of an included patient
Exclusion criteria
Presence of ADPKD (autosomal dominant polycystic kidney disease)
Patient already has a genetic diagnosis
Patients without interest/with objection
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL73385.091.20 |