|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia (SCZ), de novo in a girl with atypical Rett syndrome, and de novo in a woman with SCZ.
|
29431277 |
2018 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome.
|
29137252 |
2017 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome.
|
22968132 |
2013 |
|
Rett Syndrome, Atypical
|
0.200 |
Biomarker
|
disease |
BEFREE |
In conclusion, i) MECP2 is one of the most important genes in the diagnosis of genetic intellectual disability in females; ii) MECP2 must be studied not only in patients with classical/atypical Rett syndrome but also in patients with other phenotypes related to Rett syndrome; and iii) for the new variants, it is important to perform complementary studies, including the analysis of large populations of healthy individuals and the use of in silico programs.
|
23810759 |
2013 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have screened the CDKL5 gene in 44 patients with atypical Rett syndrome who had tested negative for MECP2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations.
|
23242510 |
2013 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
|
20970936 |
2011 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation.
|
18174548 |
2007 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
|
16183801 |
2006 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We screened exon 1 of MECP2 for mutations and for large rearrangements in a panel of 212 typical cases of Rett syndrome and one family case with atypical Rett syndrome.
|
16829352 |
2006 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked gene encoding the methyl-CpG binding protein MeCP2 are the primary cause of classic and atypical Rett syndrome and have recently been shown to contribute to other neurodevelopmental disorders of varying severity.
|
16225834 |
2005 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A total of 45 different mutations of methyl-CpG-binding protein 2 gene (MECP2) were identified in 145 of 219 Japanese patients with typical or atypical Rett syndrome (RTT) (66.2%).
|
15737703 |
2005 |
|
Rett Syndrome, Atypical
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
|
Rett Syndrome, Atypical
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
|
Rett Syndrome, Atypical
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|