RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
Disease: Coffin-Lowry syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction. 29875643 2018
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Here we report the first in-frame deletion in C-terminal KD of RPS6KA3 in a CLS patient with drop episodes. 25044551 2014
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE How RSK2-deficiency leads to cognitive dysfunctions in CLS is however poorly understood. 29627578 2018
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Three candidate genes in this region were investigated: the cDNA for kinase Rsk-2 involved in Coffin-Lowry syndrome, the brain-specific exon of a transcript in the DMD locus (DP140 isoform of dystrophin), and exon 18 of the glycerol kinase gene, which is specific to fetal brain transcripts.All three sequences were normal. 10190484 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants. 24416220 2014
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. 26927527 2016
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Thus, Rsk2 loss-of-function, as seen in CLS, perturbs the differentiation of neural precursors into neurons, and maintains them instead as proliferating radial precursor cells, a defect that may underlie the cognitive dysfunction seen in CLS. 20832397 2010
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD Insulin resistance and lipodystrophy in mice lacking ribosomal S6 kinase 2. 12765942 2003
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE This microduplication is only the third intragenic duplication of RPS6KA3, and the second and smallest reported to date thought to cause CLS. 31512387 2019
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. 9887375 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. 29678278 2018
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the RSK2 gene (RPS6KA3) on chromosome Xp22.2, have been found to cause Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by psychomotor retardation, characteristic facial and digital abnormalities, and progressive skeletal deformations. 11180593 2001
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE CLS is caused by mutations in a gene located in Xp22.2 and encoding RSK2, a growth-factor regulated protein kinase. 11896450 2002
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. 17717706 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Here we present 44 novel mutations in RSK2 causing CLS. 16879200 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease LHGDN CLS is caused by mutations in a gene located in Xp22.2 and encoding RSK2, a growth-factor regulated protein kinase. 11896450 2002
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. 14973203 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. 14986828 2003
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE In the present report, a male patient affected with Coffin-Lowry syndrome is shown to have a nonsense mutation of the RSK2 gene. 11746134 2001
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. 14986828 2003
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. 16691578 2006