Ontology highlight
ABSTRACT:
SUBMITTER: Gazda HT
PROVIDER: S-EPMC1698708 | biostudies-literature | 2006 Dec
REPOSITORIES: biostudies-literature
Gazda Hanna T HT Grabowska Agnieszka A Merida-Long Lilia B LB Latawiec Elzbieta E Schneider Hal E HE Lipton Jeffrey M JM Vlachos Adrianna A Atsidaftos Eva E Ball Sarah E SE Orfali Karen A KA Niewiadomska Edyta E Da Costa Lydie L Tchernia Gil G Niemeyer Charlotte C Meerpohl Joerg J JJ Stahl Joachim J Schratt Gerhard G Glader Bertil B Backer Karen K Wong Carolyn C Nathan David G DG Beggs Alan H AH Sieff Colin A CA
American journal of human genetics 20061102 6
Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is ...[more]