|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
As such, RNAa can be a valuable approach for therapeutic treatment of the FOXG1-haploinsufficiency-linked variant of the Rett syndrome.
|
28639189 |
2019 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical.
|
31105003 |
2019 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be caused by mutations of the CDKL5 (OMIM*300203) and FOXG1 (OMIM*164874) genes.
|
31206249 |
2019 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
They further suggest that an abnormal sizing of the dendritic tree of neocortical projection neurons may occur in West and Rett syndrome patients with anomalous FOXG1 allele dosages and contribute to their neurolopathological profiles.
|
29385539 |
2019 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
We also predicted the structural order-disorder propensity and assessed the evolutionary rates per site of MeCP2, CDKL5, and FOXG1 to investigate the relationships between disordered structure and other related properties with RTT.
|
31717404 |
2019 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
CDKL5 and FOXG1 are other genes identified as causative genes in atypical forms of RTT.
|
30929312 |
2019 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
FOXG1-related disorders, including the congenital form of Rett syndrome, can be caused by deletions, intragenic mutations or duplications.
|
31450553 |
2019 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified.
|
28781028 |
2018 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Apart from MECP2, pathogenic sequence variants and copy number variants of FOXG1 gene lead to congenital type of Rett syndrome which is a more severe form and characterised by absence of early normal development as seen in classical Rett syndrome.
|
29920362 |
2018 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The position effect involves forkhead box G1 (FOXG1), mutations in which are associated with the congenital form of Rett syndrome and FOXG1 syndrome.
|
29321672 |
2018 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free.
|
27062609 |
2017 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The genetic etiology of RTT without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden.
|
27171548 |
2017 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations.
|
28851325 |
2017 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
RettBASE was created in 2002 as a MECP2 variant database and has grown to become a comprehensive variant database for RTT and related clinical phenotypes, containing a curated collection of variants for MECP2, CDKL5, and FOXG1 genes.
|
28544139 |
2017 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT.
|
27265524 |
2016 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Our findings further the understanding of the etiology of RTT by introducing a new pathological event occurring in the brain of FOXG1(+/-) patients during embryonic development and its time-dependent shift toward a general decrease in brain synapses.
|
26443267 |
2016 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
MGD |
Mutations in FOXG1 have been reported to be involved in the onset of Rett Syndrome, for which sequence alterations of MECP2 and CDKL5 are known.
|
27001178 |
2016 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FOXG1 have been reported to be involved in the onset of Rett Syndrome, for which sequence alterations of MECP2 and CDKL5 are known.
|
27001178 |
2016 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome.
|
25565401 |
2015 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Mutations of genes encoding cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FOXG1) are also found in early onset RTT variants.
|
25931020 |
2015 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Variants in other genes such as CDKL5 and FOXG1 are usually associated with individuals who manifest distinct phenotypes that may overlap with RTT.
|
25424712 |
2015 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1).
|
25389532 |
2014 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel mutation (p. D263VfsX190) in FOXG1 gene in a patient with congenital variant of Rett syndrome.
|
24412290 |
2014 |
|
Rett Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
|
24839169 |
2014 |
|
Rett Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome.
|
25266269 |
2014 |