Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.

Abstract:

:Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cytogenetic and molecular status. We have studied, in a large fragile X family, the correlation between the molecular data and the phenotypic expression of the syndrome. We report two brothers who carry identical unmethylated premutated alleles but present different clinical phenotypes. We also suggest that reductions in allele size from one generation to another may be, as in other diseases, because of triplet amplifications, more common at the FRAXA locus than previously thought.

journal_name

J Med Genet

authors

Pintado E,de Diego Y,Hmadcha A,Carrasco M,Sierra J,Lucas M

doi

10.1136/jmg.32.11.907

subject

Has Abstract

pub_date

1995-11-01 00:00:00

pages

907-8

issue

11

eissn

0022-2593

issn

1468-6244

journal_volume

32

pub_type

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