Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 439-445, 2021.
Article
en Zh
| WPRIM
| ID: wpr-879598
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.@*METHODS@#For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase@*RESULTS@#For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.@*CONCLUSION@#FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Diagnóstico Prenatal
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Síndrome del Cromosoma X Frágil
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Discapacidad Intelectual
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Article