Mosaicism in Fragile X syndrome: A family case series.
J Intellect Disabil
; 26(3): 800-807, 2022 Sep.
Article
em En
| MEDLINE
| ID: mdl-33998336
Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 (FMR1) gene, producing a variable expression of the Fragile X Mental Retardation Protein (FMRP). Here we report a family with several individuals affected by FXS: a boy with a hypermethylated FMR1 mutation and a classic phenotype; a man with an FMR1 gene mosaicism in the range of premutation (PM) and full mutation (FM), who has a mild phenotype due to which FXS was initially disregarded; and the cases of four women with a FM and mosaicism. This report highlights the importance of DNA molecular testing for the diagnosis of FXS in patients with developmental delay, intellectual disability and/or autism due to the variable phenotype that occurs in individuals with FMR1 mosaicisms.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Cromossomo X Frágil
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Intellect Disabil
Assunto da revista:
TRANSTORNOS MENTAIS
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Colômbia
País de publicação:
Reino Unido