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Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations
Author(s) -
Bülow Luzie,
Lissewski Christina,
Bressel Rainer,
Rauch Anita,
Stark Zornitza,
Zenker Martin,
Bartsch Oliver
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36838
Subject(s) - juvenile myelomonocytic leukemia , noonan syndrome , hydrops fetalis , chylothorax , medicine , ptpn11 , costello syndrome , polyhydramnios , hydrothorax , fetus , pathology , cancer research , cancer , genetics , biology , pregnancy , ascites , kras , colorectal cancer , stem cell , haematopoiesis
Fetal hydrops, fetal pleural effusions, hydrothorax, and chylothorax, may be associated with various genetic disorders, in particular with the Noonan, cardio‐facio‐cutaneous and Costello syndromes. These syndromes, collectively called RASopathies, are caused by mutations in the RAS/MAPK pathway, which is known to play a major role in lymphangiogenesis. Recently, germline mutations in the Casitas B‐cell lymphoma ( CBL ) gene were reported in 25 patients and of these, 20 had juvenile myelomonocytic leukemia (JMML). The disorder was named “CBL syndrome” or “Noonan syndrome‐like disorder with or without juvenile myelomonocytic leukemia” (NSLL). To date, prenatal abnormalities have not been reported and it is still debated whether the CBL syndrome falls into the category of a RASopathy, or represents a different entity. Here we report on three unrelated patients with CBL mutations manifesting with hydrops fetalis, fetal pleural effusions and/or congenital hydro‐/chylothorax. Our findings further connect the CBL syndrome with the RASopathies. © 2014 Wiley Periodicals, Inc.