Assembly of a large sample of patients/families with nonsyndromic oro-facial clefts from Central Europe for identification of genetic factors responsible for this phenotype by usage of association and linkage disequilibrium studies.
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
For the researchers from Nijmegen the primary goal is to collect bloodsamples
of patients with cleft lip/palate and their parents.
Secondary outcome
In Bonn analyses will be perfomed to search for DNA susceptibility loci and
genes involved in the aetiology of orofacial clefts
Background summary
Orofacial clefts belong to one of the most common congenital anomalies and may
be observed in the context of various complex malformation syndromes. However,
about 60% of the cases are classified as nonsyndromic orofacial clefts. Results
of numerous epidemiological studies point towards a multifactorial etiology of
isolated facial clefts, with several unknown interacting genetic mechanisms.
This influence of genetic factors on cleft formation is reflected in increased
recurrence risks for clefting in close relatives of cleft patients and higher
concordance rates in monozygotic as compared to dizygotic twins.
Study objective
Assembly of a large sample of patients/families with nonsyndromic oro-facial
clefts from Central Europe for identification of genetic factors responsible
for this phenotype by usage of association and linkage disequilibrium studies.
Study design
Blood and questionnaires are sampled from patients treated by *het Schisisteam*
of the Radboud University Medical Centre Nijmegen and their parents.
DNA is extracted by the laboratory of the Department of Human Genetics Nijmegen
and consecutively the samples are sent to the Institute of Human Genetics in
Bonn. In Bonn the DNA is subjected to a genome wide scan, fine-mapping, linkage
disequilibrium studies and association studies.
The part of the research that takes place in Nijmegen, will only be sample
collection. All data analysis will be performed in Bonn.
Study burden and risks
The risks associated with participating in this study are minimal. The
interview of patients/parents includes questions covering medical history and
family history concerning orofacial cleft; It poses no risk (physical or
psychological) to the individual. Blood is drawn by a clinician. There is a
minimal risk associated with venapuncture: slight pain and possible bruising,
infection.
Postbus 9101
6500HB
NL
Postbus 9101
6500HB
NL
Listed location countries
Age
Inclusion criteria
patients with nonsyndromic orofacial clefts and their affected sibs
parents of patients with nonsyndromic orofacial clefts
only persons who originate from Central European countries will be included
Exclusion criteria
patients with syndromal orofacial clefting
patients from countries outside of Central Europe
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 | NL13897.091.06 |