Recent advances in RASopathies.
Sendai, Japan. In J Hum Genet, Nov 2015
Recently, novel gene variants, including RIT1, RRAS, RASA2, A2ML1, SOS2 and LZTR1, have been shown to be associated with RASopathies, further expanding the disease entity.
Excess of rare, inherited truncating mutations in autism.
Seattle, United States. In Nat Genet, Jun 2015
This analysis identifies a second class of candidate genes (for example, RIMS1, CUL7 and LZTR1) where transmitted mutations may create a sensitized background but are unlikely to be completely penetrant.