The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Mol Cell Probes
; 24(2): 107-9, 2010 Apr.
Article
en En
| MEDLINE
| ID: mdl-19836446
ABSTRACT
Most common inherited form of intellectual disability, fragile X syndrome is associated to an expansion of greater than 200 CGG repeats in the 5' untranslated region of the FMR1 gene on the X chromosome which causes transcriptional silencing and deficiency of the encoded protein FMRP. Molecular diagnosis is performed through a combination of PCR to identify fewer than 100-150 repeats and of Southern blot analysis to identify longer alleles and the methylation status of the FMR1 promoter. We present a family with one patient with mild mental retardation who showed an atypical profile at Southern analysis due to the -413C > G transversion located in the FMR1 promoter which had been described as possibly associated with mental retardation. We demonstrated this variant in other four family members along three generations, including the maternal grandfather who did not manifest any pathological feature. Though the -413C > G substitution was not found in a large control series, these findings allowed to exclude its role in determining the disease phenotype.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Regiones Promotoras Genéticas
/
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Síndrome del Cromosoma X Frágil
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Aged80
/
Child
/
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Mol Cell Probes
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOTECNOLOGIA
Año:
2010
Tipo del documento:
Article