Citations 1
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome
Bryant, Carson J. , Lorea, Cláudia Fernandes , Almeida, Hiram Larangeira de , Weinert, Letícia Schwerz , Vedolin, Leonardo , Baserga, Susan J. , Lorea, Cláudia F , de Almeida, Hiram Larangeira , Weinert, Letícia , Vairo, Filippo , Baserga, Susan J , Vairo, Filippo Pinto e
Proceedings of the National Academy of Sciences | May 3, 2021 | Volume: 118 | Issue: 19 | Pages: No page available
Significance RBM28 is a human protein essential for proper assembly of the large ribosomal subunit, crucially enabling synthesis of all cellular proteins. Defects in RBM28 cause rare ribosomopathies: alopecia, neurological defects, and endocrinopathy (ANE) syndrome. We investigated an ANE syndrome patient with a clinical presentation consistent with the definition of ANE syndrome but possessing differing genetic variants and molecular pathology. We find one inherited allele is null, clarifying that ANE syndrome is not caused by RBM28 haploinsufficiency, while the other inherited allele retains enough function to enable survival but preclude proper development. Our results define an underlying pathology of ANE syndrome, further delineating an emerging class of assembly factor ribosomopathies and underscoring the importance of nucleolar processes in human health.