Publications by authors named "Ines Kavamura"
Article Synopsis
- Noonan syndrome (NS) is a common nonchromosomal developmental disorder caused by faulty RAS-MAPK signaling, which leads to significant clinical variations due to its genetic heterogeneity.
- Recent research identified the SOS1 gene as a key contributor to NS, where extensive mutation analysis found 33 significant variants, including 16 new mutations that affect the protein's stability and functionality.
- The study confirmed a high incidence of ectodermal abnormalities in NS and showed that SOS1 mutations do not significantly impact isolated cases of specific heart defects, helping to clarify the genotype-phenotype relationship.
Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)).
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