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Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Authors :
Tenorio‐Castano, Jair
Mansilla Aparicio, Elena
García Santiago, Fe Amalia
Klotz, Cherise M.
Regojo, Rita María
Anguita, Estefanía
Ryan, Erin
Juusola, Jane
Herrero, Beatriz
Arias, Pedro
Parra, Alejandro
Pascual, Patricia
Gallego, Natalia
Cazalla, Mario
Rodriguez‐González, Roberto
Antolín, Eugenia
Nevado, Julián
Ruiz‐Perez, Víctor L.
Lapunzina, Pablo
Source :
Clinical Genetics; Dec2024, Vol. 106 Issue 6, p713-720, 8p
Publication Year :
2024

Abstract

Non‐immune hydrops fetalis (NIHF) is a rare entity characterized by excessive accumulation of fluid within the fetal extravascular compartments and body cavities. Here we present two intrauterine fetal demises with NIHF presenting with oligohydramnios, cystic hygroma, pleural effusion, and generalized hydrops with predominance of subcutaneous edema. The fetuses also presented with ascites, severe and precocious IUGR and skeletal anomalies. Whole exome sequencing was applied in order to screen for a possible genetic cause. The results identified biallelic variants in MYBBP1A in both fetuses. A previous report described another case with a similar phenotype having compound heterozygous variants in the same gene. The protein encoded by MYBBP1A is involved in several cellular processes including the synthesis of ribosomal DNA, the response to nucleolar stress, and tumor suppression. Our functional protein analysis through immunohistochemistry indicates that MYBBP1A is a gene expressed during fetal stages. Altogether, we concluded that MYBBP1A is associated with the development of hydrops fetalis. More cases and further studies are necessary to understand the role of this gene and the mechanism associated with NIHF. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00099163
Volume :
106
Issue :
6
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
180622153
Full Text :
https://doi.org/10.1111/cge.14601