Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia is caused by CBL mutations, fusion genes in particular. Inheritance pattern is autosomal dominant.
Loh ML et. al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.[^]
Pérez B et. al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.[^]
Martinelli S et. al. (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.[^]
Niemeyer CM et. al. (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.[^]
Bülow L et. al. (2015) Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.[^]