High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.
J Mol Neurosci
; 41(1): 105-9, 2010 May.
Article
en En
| MEDLINE
| ID: mdl-19806472
Structural variations that affect the copy number of the MECP2 gene were shown to cause mental retardation in males by driving the overexpression of this gene. To access the impact of these rearrangements in males with unexplained mental retardation, we have performed a quantitative real-time polymerase chain reaction assay using SYBR Green I chemistry to quantify MECP2 gene copy number in 145 Brazilian males with mental retardation of unknown cause. Three patients carrying MECP2 duplications (approximately 2%) were identified. The analysis of additional markers flanking the MECP2 region showed that the duplications observed are nonrecurrent. Expression studies in two of these patients revealed the overexpression of the MECP2 gene compared to the expression level observed in controls. These findings corroborate other recent reports in the literature and highlight that the overexpression of MECP2 caused by duplications involving this gene is a relatively frequent genetic cause of mental retardation in males, highlighting the importance of MECP2 gene dosage for diagnostic purposes in such cases.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Duplicación de Gen
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Proteína 2 de Unión a Metil-CpG
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
J Mol Neurosci
Asunto de la revista:
BIOLOGIA MOLECULAR
/
NEUROLOGIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Estados Unidos