Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
Am J Med Genet
; 84(3): 229-32, 1999 May 28.
Article
em En
| MEDLINE
| ID: mdl-10331598
ABSTRACT
In most cases the fragile X syndrome is caused by an amplification of the CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene, in combination with the hypermethylation of the proximal CpG island. Recently, also a few cases with deletions or a mosaic of a deletion and a full mutation in the FMR1 gene, leading to the same phenotype, have been described. Here we report the molecular analysis of a patient with typical fragile X phenotype and mosaicism of the FMR1 genomic region consisting of a premutation, a full mutation of the CGG repeats, and a 215 bp deletion, diagnosed by Southern blot hybridisation and polymerase chain reaction (PCR). Sequence analysis of the deletion demonstrated that the 5' breakpoint of the deletion is located within a putative hotspot region 75-53 bp proximal to the CGG repeat.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação a RNA
/
Deleção de Genes
/
Síndrome do Cromossomo X Frágil
/
Mosaicismo
/
Proteínas do Tecido Nervoso
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article