Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
|
17171659 |
2007 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, duplication of the MECP2 genomic region results in mental retardation with speech and social problems.
|
18321864 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males.
|
17084570 |
2007 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).
|
22123427 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Consistent with this notion is the recent demonstration that MECP2 mutations cause Rett syndrome (RTT, MIM 312750), a childhood neurological disorder that represents one of the most common causes of mental retardation in females.
|
11242118 |
2001 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study we summarize the results of diagnostic testing of 30 patients with Rett syndrome (RTT) or mental retardation of unknown etiology using bidirectional sequencing of the open reading frame of the MECP2 gene.
|
22277191 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
|
18165974 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women.
|
23611944 |
2013 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was: (a) to evaluate the incidence and spectrum of MECP2 mutations in children with RTT and variant MR; (b) to evaluate phenotype-genotype correlations.
|
21982064 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This case broadens the phenotypic spectrum of MECP2 abnormalities with consequent implication in diagnosis and genetic counselling of girls with non-syndromic mental retardation.
|
20236124 |
2010 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.
|
18688080 |
2008 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
|
17383248 |
2007 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Numerous recent reports have proposed that mutations in the C-terminal domain of the MECP2 gene could be a frequent cause of mental retardation in males.
|
11896461 |
2002 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR).
|
20098342 |
2010 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein2 (MeCP2), is a leading cause of mental retardation in females.
|
21812101 |
2011 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MECP2 gene mutations responsible for Rett syndrome have also been found in male patients with mental retardation, sometimes associated with different neurologic abnormalities.
|
15704871 |
2004 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), the second most common cause of mental retardation in females, has been associated with mutations in MeCP2, the archetypical member of the methyl-CpG binding domain (MBD) family of proteins.
|
15549394 |
2005 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RS), an X-linked neurodevelopmental disorder and the common cause of mental retardation in females, is caused by methyl CpG binding protein 2 (MECP2) gene mutations with a frequency of more than 95% in classical Rett patients.
|
21300488 |
2012 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients.
|
18985075 |
2009 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females.
|
10814718 |
2000 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Consequently, we have searched for MECP2 mutations in 294 patients (43 Angelman and Prader-Willi like included) with mental retardation (MR) of unknown aetiology.
|
16879196 |
2006 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
|
15558314 |
2005 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The phenotypic spectrum of MECP2 mutations is broad and includes mental retardation with or without seizures, Angelman syndrome-like phenotype, and autism.
|
16225828 |
2005 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study examined the effects of sedation on auditory brainstem response interpeak latency intervals (i.e., I-III, III-V, and I-V) in two groups: (1) a group with Rett syndrome who were positive for mutations in the MECP2 gene and (2) a group negative for mutations in the MECP2 gene but who were severely to profoundly delayed with other causes of mental retardation.
|
20399386 |
2010 |
Mental Retardation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), is a leading cause of mental retardation with autistic features in females.
|
16647848 |
2006 |