Gene: MECP2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749738
rs61749738
MECP2
0.010 GeneticVariation 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
dbSNP: rs267608595
rs267608595
MECP2
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs63390262
rs63390262
MECP2
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs782460882
rs782460882
MECP2
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs267608563
rs267608563
MECP2
0.010 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs61749720
rs61749720
MECP2
0.010 GeneticVariation BEFREE Patient 1 presented somatic mosaicism for the classic RTT p.R106W mutation and patient 4 carried the p.T203M polymorphism. 20098342

2010
dbSNP: rs267608597
rs267608597
MECP2
0.010 GeneticVariation BEFREE The first one, the double nucleotide substitution c.1162_1163delinsTA leading to a premature stop codon (p.Pro388X) was found in a female patient with random X-inactivation, presenting with borderline mental impairment without any features of Rett syndrome. 17383248

2007
dbSNP: rs61748381
rs61748381
MECP2
0.010 GeneticVariation BEFREE L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. 16672765

2006
dbSNP: rs61748395
rs61748395
MECP2
0.010 GeneticVariation BEFREE The mutation (p.Y141C) lies within the methyl-binding domain, and has only been reported once in another atypical RTT. 16879196

2006
dbSNP: rs61749735
rs61749735
MECP2
0.010 GeneticVariation BEFREE We found six polymorphisms (three novel, three previously reported) in 10 patients, one novel unclassified silent change (p.V222V) in a man, and one causative mutation in a girl with MR. Once this case was clinically reviewed, the girl presented symptoms of atypical RTT. 16879196

2006
dbSNP: rs267608591
rs267608591
MECP2
0.710 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs61751367
rs61751367
MECP2
0.710 GeneticVariation BEFREE The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630

2016
dbSNP: rs786205045
rs786205045
MECP2
0.710 GeneticVariation BEFREE Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype. 23866855

2013
dbSNP: rs61751457
rs61751457
MECP2
0.710 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs61752361
rs61752361
MECP2
0.710 GeneticVariation BEFREE The results showed the presence of 3 de novo point mutations in the C-terminal region: 2 novel mutations: c.1065C>A (p.S355R) and c.1030C>G (p.R344G) in the 2 typical Rett syndrome girls, but also the c.996C>T (p.S332S) mutation first described in the atypical Rett syndrome patient. 21940684

2012
dbSNP: rs61748411
rs61748411
MECP2
0.710 GeneticVariation BEFREE We found a causal role for T158A mutation in the development of RTT-like phenotypes, including developmental regression, motor dysfunction, and learning and memory deficits. 22119903

2011
dbSNP: rs179363900
rs179363900
MECP2
0.710 GeneticVariation BEFREE We show that a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome and another Rett syndrome-causing mutation, such that protein-heterochromatin binding observed by immunofluorescence and immunoblotting is wild-type > P152A > P152R > T158 M, consistent with the severity of the observed phenotype. 18989701

2009
dbSNP: rs28934908
rs28934908
MECP2
0.710 GeneticVariation BEFREE The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23). 18174559

2007
dbSNP: rs61748383
rs61748383
MECP2
0.710 GeneticVariation BEFREE Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. 15875198

2006
dbSNP: rs267608475
rs267608475
MECP2
0.710 GeneticVariation BEFREE A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti. 10577905

1999
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation BEFREE An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. 30569584

2019
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation BEFREE Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. 29428602

2018
dbSNP: rs61751444
rs61751444
MECP2
0.720 GeneticVariation BEFREE The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630

2016
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation BEFREE Therefore, we decided to characterize a novel MeCP2 phospho-isoform (Tyr-120) whose relevance was suggested by a Rett syndrome patient carrying a Y120D substitution possibly mimicking a constitutively phosphorylated state. 25527496

2015
dbSNP: rs61751444
rs61751444
MECP2
0.720 GeneticVariation BEFREE We also detected the c.925C >T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. 21160487

2011