rs28934908
|
|
|
0.020 |
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
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation.
|
12325019 |
2002 |
rs587777605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a novel missense mutation (c.1040G>A, p.Arg347Gln) in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred.
|
24115387 |
2014 |
rs121918521
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|
|
0.010 |
GeneticVariation |
BEFREE |
Another synonymous mutation in the same exon, c.321C>T (p.D107D), has a similar molecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH).
|
23595882 |
2013 |
rs121918524
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|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, a mutant PHF8 (phenylalanine at position 279 to serine) identified in the XLMR patients is defective in enzymatic activity, indicating that the loss of histone demethylase activity is causally linked with the onset of disease.
|
20548336 |
2010 |
rs137852351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a genomic deletion (0.4 Mb) involving the entire GRIA3 (encoding iGluR3) by using an X-array comparative genomic hybridization (CGH) and four missense variants (G833R, M706T, R631S, and R450Q) in functional domains of iGluR3 by sequencing 400 males with X-linked mental retardation (XLMR).
|
17989220 |
2007 |
rs368568228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a genomic deletion (0.4 Mb) involving the entire GRIA3 (encoding iGluR3) by using an X-array comparative genomic hybridization (CGH) and four missense variants (G833R, M706T, R631S, and R450Q) in functional domains of iGluR3 by sequencing 400 males with X-linked mental retardation (XLMR).
|
17989220 |
2007 |
rs121918362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family.
|
16385466 |
2006 |
rs1433911627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family.
|
16385466 |
2006 |
rs866776696
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family.
|
16385466 |
2006 |
rs28934904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R133C mutation has been detected in female patients with classic and preserved speech variant RTT, but not in males with non-specific XLMR.
|
16122633 |
2005 |
rs145438966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two missense variants (p.V629I and p.M560V) that were not highly conserved and were not associated with increased creatine : creatinine ratio, one translational silent variant (p.L472), and 10 intervening sequence variants or untranslated region variants (IVS6+9C-->T, IVS7-151_152delGA, IVS7-99C-->A, IVS8-35G-->A, IVS8+28C-->T, IVS10-18C-->T, IVS11+21G-->A, IVS12+15C-->T, *207G-->C, IVS12+32C-->A) were found only in the XLMR panel but should be considered as unclassified variants or as a polymorphism (p.M560V).
|
15154114 |
2004 |
rs781899045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two missense variants (p.V629I and p.M560V) that were not highly conserved and were not associated with increased creatine : creatinine ratio, one translational silent variant (p.L472), and 10 intervening sequence variants or untranslated region variants (IVS6+9C-->T, IVS7-151_152delGA, IVS7-99C-->A, IVS8-35G-->A, IVS8+28C-->T, IVS10-18C-->T, IVS11+21G-->A, IVS12+15C-->T, *207G-->C, IVS12+32C-->A) were found only in the XLMR panel but should be considered as unclassified variants or as a polymorphism (p.M560V).
|
15154114 |
2004 |
rs28935498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
|
11940089 |
2002 |