More knowledge about the clinical aspects of the FMR2 gene mutation can complete the couseling. Carriers with the desire to start a family can take the chance on POF in consideration. The clinical symptoms of FXTAS can be differentiated from other…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Endocrine disorders of gonadal function
- Movement disorders (incl parkinsonism)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Pheno-genotyping of FMR2 gene mutation.
Secondary outcome
-
Background summary
In 1992 a mutation consisting of a CGG-repeat expansion in the FMR2 gene, has
been discoverd (Sutherland and Baker). The FMR2 genes (FRAXE) fragile site is
situated at Xq28, close to the well-known fragile X syndrome (FRAXA) site at
Xq27. The underlying molecular basis for FRAXE is an unstable CGG-repeat
identical to that of FRAXA. BesideS mental retardation FRAXA has been
associated with premature ovarian failure (POF) (Hundscheid 2001) and fragile
X-associated tremor ataxia syndrome (FXTAS) (Hagerman 2004). We ask ourselves
whether the FMR2 gene mutation also enhances the risk of POF, FXTAS or other
additional health risks.
Study objective
More knowledge about the clinical aspects of the FMR2 gene mutation can
complete the couseling. Carriers with the desire to start a family can take the
chance on POF in consideration. The clinical symptoms of FXTAS can be
differentiated from other degenerative neurological diseases and benefit from
therapy.
Study design
A retrospective diagnostic survey among carriers of FMR2 gene mutation and
non-carrier familymembers.
Study burden and risks
Minimal risk/burden: an interview, physical and neurological examination and a
blood sample.
postbus 9101
6500 HB Nijmegen
Nederland
postbus 9101
6500 HB Nijmegen
Nederland
Listed location countries
Age
Inclusion criteria
Familymembers of a family with cytogenetically confirmed mutation in FMR2 gene.
Exclusion criteria
-
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 | NL11949.091.06 |