Abstract
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature ovarian failure among female carriers and a new tremor/ataxia syndrome among older male carriers. Recent observations also provide direct evidence of dysregulation of the FMR1 gene in the premutation range, which may explain many of the clinical observations.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 278-283 |
| Number of pages | 6 |
| Journal | Current Opinion in Genetics and Development |
| Volume | 12 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 1 2002 |
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ASJC Scopus subject areas
- Genetics
Cite this
The fragile X premutation : Into the phenotypic fold. / Hagerman, Randi J; Hagerman, Paul J.
In: Current Opinion in Genetics and Development, Vol. 12, No. 3, 01.06.2002, p. 278-283.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The fragile X premutation
T2 - Into the phenotypic fold
AU - Hagerman, Randi J
AU - Hagerman, Paul J
PY - 2002/6/1
Y1 - 2002/6/1
N2 - Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature ovarian failure among female carriers and a new tremor/ataxia syndrome among older male carriers. Recent observations also provide direct evidence of dysregulation of the FMR1 gene in the premutation range, which may explain many of the clinical observations.
AB - Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature ovarian failure among female carriers and a new tremor/ataxia syndrome among older male carriers. Recent observations also provide direct evidence of dysregulation of the FMR1 gene in the premutation range, which may explain many of the clinical observations.
UR - http://www.scopus.com/inward/record.url?scp=0036591683&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036591683&partnerID=8YFLogxK
U2 - 10.1016/S0959-437X(02)00299-X
DO - 10.1016/S0959-437X(02)00299-X
M3 - Article
C2 - 12076670
AN - SCOPUS:0036591683
VL - 12
SP - 278
EP - 283
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
SN - 0959-437X
IS - 3
ER -