The fragile X premutation: Into the phenotypic fold

Research output: Contribution to journalArticle

187 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)278-283
Number of pages6
JournalCurrent Opinion in Genetics and Development
Volume12
Issue number3
DOIs
StatePublished - Jun 1 2002

Fingerprint

Alleles
Intellectual Disability
Genes
Primary Ovarian Insufficiency
Tremor
Ataxia
Phenotype
Mutation

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 journalArticle

@article{0642fa131595491092333c8f1e2450dd,
title = "The fragile X premutation: Into the phenotypic fold",
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.",
author = "Hagerman, {Randi J} and Hagerman, {Paul J}",
year = "2002",
month = "6",
day = "1",
doi = "10.1016/S0959-437X(02)00299-X",
language = "English (US)",
volume = "12",
pages = "278--283",
journal = "Current Opinion in Genetics and Development",
issn = "0959-437X",
publisher = "Elsevier Limited",
number = "3",

}

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 -