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Family of genetic conditions caused by mutations affecting Ras genes
The RASopathies are a group of developmental syndromes caused by
germline mutations in genes belonging to the
Ras/MAPK pathway . Common features include
intellectual disability ,
congenital heart defects , skin abnormalities, and
craniofacial abnormalities .
[1]
Known RASopathies include the following:
[1]
[2]
Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as
RAS-associated autoimmune leukoproliferative disorder (RALD) or
juvenile myelomonocytic leukemia (JMML). These syndromes may share some features with RASopathies but are not considered true RASopathies if caused by somatic mutation.
[3] Generally, RASopathies increase the risk of developing cancers.
[1]
[4] Neurodevelopmental or psychiatric disorders such as
attention deficit hyperactivity disorder ,
autism spectrum disorder, and
anxiety occur at higher rates in individuals with RASopathies.
[5]
[6]
RASopathies are caused by germline mutations which result in overall activation of the Ras/MAPK pathway. Mutations in the following genes are associated with one or more types of RASopathy:
[2]
[7]
^
a
b
c Rauen KA (2022).
"Defining RASopathy" . Disease Models & Mechanisms . 15 (2).
doi :
10.1242/dmm.049344 .
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^
a
b Tidyman WE, Rauen KA (2016).
"Pathogenetics of the RASopathies" . Human Molecular Genetics . 25 (R2): R123–R132.
doi :
10.1093/hmg/ddw191 .
PMC
6283265 .
PMID
27412009 .
^ Riller Q, Rieux-Laucat F (2021).
"RASopathies: From germline mutations to somatic and multigenic diseases" . Biomedical Journal . 44 (4): 422–432.
doi :
10.1016/j.bj.2021.06.004 .
PMC
8514848 .
PMID
34175492 .
^ Dunnett-Kane V, Burkitt-Wright E, Blackhall FH, Malliri A, Evans DG, Lindsay CR (2020).
"Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts" . Annals of Oncology . 31 (7): 873–883.
doi :
10.1016/j.annonc.2020.03.291 .
PMC
7322396 .
PMID
32240795 . {{
cite journal }}
: CS1 maint: multiple names: authors list (
link )
^ Rai B, Naylor PE, Siqueiros-Sanchez M, Wintermark M, Raman MM, Jo B; et al. (2023).
"Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities" . Translational Psychiatry . 13 (1): 245.
doi :
10.1038/s41398-023-02504-4 .
PMC
10322993 .
PMID
37407569 . {{
cite journal }}
: CS1 maint: multiple names: authors list (
link )
^ Zenker M (2022).
"Clinical overview on RASopathies" . American Journal of Medical Genetics Part C: Seminars in Medical Genetics . 190 (4): 414–424.
doi :
10.1002/ajmg.c.32015 .
PMID
36428239 .
^ Aoki Y, Niihori T, Inoue S, Matsubara Y (2016). "Recent advances in RASopathies". Journal of Human Genetics . 61 (1): 33–9.
doi :
10.1038/jhg.2015.114 .
PMID
26446362 . {{
cite journal }}
: CS1 maint: multiple names: authors list (
link )