|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.
|
10577905 |
1999 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families.
|
10745042 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT.
|
10767337 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing.
|
10814719 |
2000 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant.
|
10854091 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.
|
10944854 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively.
|
11055898 |
2000 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease.
|
11241840 |
2001 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we show that Mecp2-deficient mice exhibit phenotypes that resemble some of the symptoms of RTT patients.
|
11242118 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We review the literature on MECP2 mutations in Rett syndrome.
|
11269512 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation.A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male.
|
11283202 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria.
|
11376998 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].
|
11402105 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
|
11706982 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls.
|
11738883 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
|
12161600 |
2002 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype.
|
12966522 |
2003 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation.
|
12966523 |
2003 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in MeCP2, which encodes a protein that has been proposed to function as a global transcriptional repressor, are the cause of Rett syndrome (RT T), an X-linked progressive neurological disorder.
|
14593183 |
2003 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
|
15034579 |
2004 |