|
rs10194776
|
|
Intellectual Disability
|
|
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
|
|
Intellectual Disability
|
|
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
|
|
Intellectual Disability
|
|
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
|
|
Intellectual Disability
|
|
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
|
|
Intellectual Disability
|
|
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
|
|
Intellectual Disability
|
|
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
|
|
Intellectual Disability
|
|
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 |
|
rs1057519087
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech.
|
26005865 |
2015 |
|
rs1131692042
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar hypoplasia, and spondylo-epiphyseal dysplasia (SED).
|
26290468 |
2015 |
|
rs113994097
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
In another family the p.R722H mutation was found as compound heterozygosity with the common p.W748S mutation in two siblings with mental retardation, ptosis, epilepsy and psychiatric symptoms.
|
20438629 |
2010 |
|
rs115466046
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.
|
21458570 |
2011 |
|
rs1162306056
|
|
Intellectual Disability
|
|
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 |
|
rs1171889657
|
|
Intellectual Disability
|
|
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 |
|
rs1177566365
|
|
Intellectual Disability
|
|
0.010 |
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 |
|
rs118203933
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
The presence of mental retardation and relative infrequency of skeletal fractures distinguish the clinical course of the patients with the Arabic mutation from those of the American and Belgian patients with the His 107-->Tyr mutation.
|
1301935 |
1992 |
|
rs121434612
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
|
10946356 |
2000 |
|
rs121434614
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report clinical, neuropsychological and molecular findings in affected males and carrier females in the fourth reported family with mental retardation caused by mutation in the PAK3 gene (Xq22.3-q23), W446S.
|
17853471 |
2007 |
|
rs1217691063
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation.
|
18782485 |
2008 |
|
rs121917899
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease.
|
27456546 |
2016 |
|
rs121918364
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
A second mutation (Y72S) was identified within the first sushi domain of SRPX2 in a male with RSs and bilateral perisylvian polymicrogyria and his female relatives with mild MR or unaffected carrier status.
|
16497722 |
2006 |
|
rs121918523
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report a novel nonsense mutation (p.K177X) in a male patient who has MR associated with CL/P.
|
17594395 |
2007 |
|
rs121918524
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings.
|
19843542 |
2010 |
|
rs121918822
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
We could identify eleven variations modifying the protein sequence of ASMT (ID only: N13H, N17K, V171M, E288D; controls only: E61Q, D210G, K219R, P243L, C273S, R291Q; ID and controls: L298F) and two deleterious splice site mutations (IVS5+2T>C and IVS7+1G>T) only observed in patients with ID.
|
21251267 |
2011 |
|
rs121965020
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (IDUA), leading to a severe phenotype with mental retardation and various somatic abnormalities, and making a request for PGD is understandable.
|
16478590 |
2006 |
|
rs122460151
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
This suggests that the R12S change is not the primary cause of short stature, microcephaly, and mental retardation in this family.
|
10607480 |
1999 |