Ontology highlight
ABSTRACT:
SUBMITTER: Lezzerini M
PROVIDER: S-EPMC6954397 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Lezzerini Marco M Penzo Marianna M O'Donohue Marie-Françoise MF Marques Dos Santos Vieira Carolina C Saby Manon M Elfrink Hyung L HL Diets Illja J IJ Hesse Anne-Marie AM Couté Yohann Y Gastou Marc M Nin-Velez Alexandra A Nikkels Peter G J PGJ Olson Alexandra N AN Zonneveld-Huijssoon Evelien E Jongmans Marjolijn C J MCJ Zhang GuangJun G van Weeghel Michel M Houtkooper Riekelt H RH Wlodarski Marcin W MW Kuiper Roland P RP Bierings Marc B MB van der Werff Ten Bosch Jutte J Leblanc Thierry T Montanaro Lorenzo L Dinman Jonathan D JD Da Costa Lydie L Gleizes Pierre-Emmanuel PE MacInnes Alyson W AW
Nucleic acids research 20200101 2
Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are also linked to a variety of phenotypes, including malignancy, in individuals with no anemia. Here we report an individual diagnosed with DBA carrying a variant in the 5'UTR of RPL9 (uL6). Additionally, we report two individuals from a family with multiple cancer incidences carrying a RPL9 missense ...[more]