|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
|
rs267607048
|
|
Intellectual Disability
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
|
22528146 |
2012 |
|
rs267607048
|
|
Intellectual Disability
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability.
|
27465203 |
2016 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation</span> and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males.
|
15814190 |
2005 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males.
|
11885030 |
2002 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
|
12325019 |
2002 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation.
|
11805248 |
2002 |
|
rs121918368
|
|
Intellectual Disability
|
|
0.030 |
GeneticVariation
|
BEFREE |
We also show that the level of the mutant protein can be restored by a treatment of cells with a clinically utilized proteasome inhibitor, suggesting that this agent may be useful for the treatment of mental retardation associated with the CRBN R419X mutation.
|
23983124 |
2013 |
|
rs121918368
|
|
Intellectual Disability
|
|
0.030 |
GeneticVariation
|
BEFREE |
The nonsense mutation, R419X, causes deletion of 24 amino acids at the C-terminus of CRBN, leading to mild ID.
|
26188093 |
2015 |
|
rs121918368
|
|
Intellectual Disability
|
|
0.030 |
GeneticVariation
|
BEFREE |
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.
|
18414909 |
2008 |
|
rs863225264
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability.
|
27159400 |
2016 |
|
rs863225264
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our report brings the total number of families who harbor MTOR p.E1799K in association with megalencephaly and ID to three.
|
26542245 |
2015 |
|
rs745756308
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Leucine 208 in human histamine N-methyltransferase emerges as a hotspot for protein stability rationalizing the role of the L208P variant in intellectual disability.
|
27769936 |
2017 |
|
rs745756308
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively.
|
26206890 |
2015 |
|
rs61748420
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |
|
rs61748420
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp).
|
26490184 |
2016 |
|
rs397507444
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Screening for methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Indian patients with idiopathic mental retardation.
|
18510799 |
2008 |
|
rs397507444
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation.
|
18782485 |
2008 |
|
rs121434613
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
These mutations include two "severe" G424R and K389N variants (responsible for severe ID and CCA) and the "mild" A365E variant (responsible for nonsyndromic mild ID).
|
31843706 |
2020 |