A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related ...
RASA1 loss in a BRAF-mutated Langerhans cell sarcoma: a mechanism of resistance to BRAF inhibitor Langerhans cell sarcoma (LCS) is a rare histiocytic neoplasm that carries a pejorative prognosis [1]. MAPK pathway activation has been demonstrated in LCS, particularly in BRAF V600E mutation cases...
Meanwhile, inhibition of miR-223 resulted in an 18.6% increase in reporter activity compared with the control, and mutation of the miR-223- binding site abolished the above effects. Next, we used western blotting to examine the RASA1 protein level after over- or down- expression of miR-223...
We then analyzed the methylation and mutation patterns of the identified gene in 101 thyroid tumors and tested its functions in vitro and in vivo to establish the tumor suppressor role in thyroid cancer. Results Among 13 negative modulators of the RAS pathway screened, RASAL1, encoding a RAS ...
RASA1 mutationWe present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as...
A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA-1 mutation. Here we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related ...
In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations ‘CMAVM,’ for capillary malformationarteriovenous malformation. The ...
Aberrant DNA methylation at specific genetic loci is a key molecular feature of juvenile myelomonocytic leukemia (JMML) with poor prognosis. Using quantitative high-resolution mass spectrometry, we identified RASA4 isoform 2, which maps to chromosome 7 and encodes a member of the GAP1 family of ...
Sequencing revealed a novel mutation of the RASA1 gene involving a frameshift mutation in the RASGAP domain of RASA1. This report extends our current genetic and clinical understanding of CM–AVM. 2013 Wiley Periodicals, Inc.doi:10.1002/ajmg.a.35935Durrington, Hannah J....
Six patients underwent genetic testing, and all had RASA1 mutation. RASA1 variant was novel in three patients (c.1495delinsCTACC, c.434_451delinsA, c.2648del), previously reported in two (c.2603+1G>A, c.475_476del), and unavailable in another. Median follow‐up age was 5.8 years ...