Molecular-clinical correlations in males with an expanded FMR1 mutation.
Am J Med Genet
; 64(2): 388-94, 1996 Aug 09.
Article
em En
| MEDLINE
| ID: mdl-8844089
ABSTRACT
Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements were also performed. Patients were divided into three groups; those with full mutation and complete methylation (n = 160), those with full mutation and partial methylation (n = 12), and those with a mosaic pattern (n = 46). Statistical comparisons were made between males with the fully methylated full mutation and those with a mosaic pattern. Males having full mutation with complete methylation had the lowest IQ scores and greatest physical involvement. These significant differences were seen only in ages after puberty. CGG repeat length did not correlate with IQ or the physical index score in any group. These findings suggest that a partial production of FMR1 protein may predict milder clinical involvement in some males with fragile X syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação a RNA
/
Repetições de Trinucleotídeos
/
Síndrome do Cromossomo X Frágil
/
Inteligência
/
Mosaicismo
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Estados Unidos