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The RASopathies constitute a diverse group of congenital disorders characterised by short stature, cardiac anomalies, distinctive facial features, predisposition to developing juvenile myelomonocytic leukaemia (JMML) and germline mutations in the Ras-mitogen activated protein kinase (MAPK) pathway.1 We recently described the genomic landscape of JMML, which can arise in the context of germline or somatic lesions in the Ras-MAPK pathway and identified somatic RRAS2 mutations as a novel lesion in JMML.2 We thus hypothesised that germline RRAS2 mutations could be an additional cause of Noonan syndrome (NS) and therefore screened 116 patients with NS who had no other identified lesions. No recurrent mutations were found in RRAS2.
Autosomal dominant germline mutations in a variety of Ras-MAPK pathway genes, including PTPN11, SOS1, KRAS, HRAS, MAP2K1, MAP2K2, NRAS, RAF1, CBL, NF1, SPRED1, BRAF, SHOC2, …
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