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.

journal_name

Curr Opin Genet Dev

authors

Hagerman RJ,Hagerman PJ

doi

10.1016/s0959-437x(02)00299-x

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

278-83

issue

3

eissn

0959-437X

issn

1879-0380

pii

S0959437X0200299X

journal_volume

12

pub_type

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