Header

UZH-Logo

Maintenance Infos

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations


Bülow, Luzie; Lissewski, Christina; Bressel, Rainer; Rauch, Anita; Stark, Zornitza; Zenker, Martin; Bartsch, Oliver (2014). Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. American Journal of Medical Genetics. Part A, 167(2):394-399.

Abstract

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.

Abstract

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.

Statistics

Citations

3 citations in Web of Science®
1 citation in Scopus®
Google Scholar™

Altmetrics

Downloads

54 downloads since deposited on 05 Feb 2015
33 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:30 October 2014
Deposited On:05 Feb 2015 14:22
Last Modified:26 Jul 2016 07:29
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1552-4825
Publisher DOI:https://doi.org/10.1002/ajmg.a.36838
PubMed ID:25358541

Download

Download PDF  'Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations'.
Preview
Content: Published Version
Filetype: PDF
Size: 1MB
View at publisher