|
rs28934908
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs121434613
|
|
|
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 |
|
rs121434613
|
|
|
0.020 |
GeneticVariation |
BEFREE |
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
|
12884430 |
2003 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Screening for methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Indian patients with idiopathic mental retardation.
|
18510799 |
2008 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation.
|
18782485 |
2008 |
|
rs61748420
|
|
|
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
|
|
|
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 |
|
rs745756308
|
|
|
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
|
|
|
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 |
|
rs863225264
|
|
|
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
|
|
|
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 |
|
rs10194776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two polymorphisms in the HTR2B gene, rs10194776 and rs16827801, were associated with IQ (P=0.0004 and 0.003, respectively), ID (P=0.02 and 0.03) and LD (P=0.04 and 0.004).
|
24887447 |
2014 |
|
rs10410239
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Linkage disequilibrium (LD) analysis revealed that the rs6511901 and rs10410239 polymorphisms of CC2D1A were in strong LD (D'=0.865), and haplotype analysis showed evidence for over-transmission from parents to MR offspring (p=0.0009).
|
22023432 |
2012 |
|
rs1047322213
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia.
|
30244542 |
2018 |
|
rs104886492
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier.
|
22132097 |
2011 |
|
rs104894743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated three types of mice with knocked-in ARX mutations associated with X-linked lissencephaly (P353R) and mental retardation [P353L and 333ins(GCG)7].
|
19605412 |
2009 |
|
rs1052108705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene.
|
31707209 |
2019 |
|
rs1057516085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability.
|
25740509 |
2015 |