|
rs397514698
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A somatic mutation of GNAQ (c.548G>A, p.Arg183Gln) plays a key role in capillary malformation development.
|
31532024 |
2019 |
|
rs397514698
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge-Weber syndrome (SWS) capillary malformations.
|
30870248 |
2019 |
|
rs397514698
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Eight capillary malformations contained GNAQ p.R183Q mutant cells, two lesions had novel GNAQ mutations (p.R183L and p.R183G), and three capillary malformations did not have a detectable GNAQ p.R183 mutation.
|
26368330 |
2016 |
|
rs397514698
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057519925
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057519942
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using next-generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.
|
31830321 |
2020 |
|
rs387906758
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we characterized in more detail the CMC-associated GOF substitution mutation of arginine-to-tryptophan at position 274 (R274W) and, in addition, the adjacent glutamine-to-alanine mutation at position 275 (Q275A).
|
31336247 |
2019 |
|
rs387906760
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, the statistical analysis of RNA-seq data with STAT1-deficient epithelial cells and primary T cells from a CMC patient revealed that the R274Q mutation affected gene expression levels of 66 and 76 non-overlapping RefSeq genes, respectively.
|
28258222 |
2017 |
|
rs1204340475
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X).
|
26969842 |
2016 |
|
rs1442264858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight capillary malformations contained GNAQ p.R183Q mutant cells, two lesions had novel GNAQ mutations (p.R183L and p.R183G), and three capillary malformations did not have a detectable GNAQ p.R183 mutation.
|
26368330 |
2016 |
|
rs387906762
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight of these mutations are known to cause CMC (p.M202V, p.A267V, p.R274W, p.R274Q, p.T385M, p.K388E, p.N397D, and p.F404Y).
|
26604104 |
2016 |
|
rs1194412935
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC.
|
24120361 |
2013 |
|
rs397518485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC.
|
24120361 |
2013 |
|
rs137852677
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain.
|
22573496 |
2012 |
|
rs137852679
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain.
|
22573496 |
2012 |
|
rs587777630
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To our knowledge, this study shows for the first time that a DNA-binding domain mutation of c.1153C>T in exon 14 (p.T385M) is the genetic cause of sporadic CMC in two unrelated Japanese patients.
|
22730530 |
2012 |