Question: Which class of genes are mutated in Diamond Blackfan Anemia patients?
Answer: Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor differentiation. Diamond-Blackfan anemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation and physical malformations.
Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients.
In 25% of patients with Diamond-Blackfan anaemia 19q13 gene mutation was detected, and recent findings suggest another gene located on 8p23.3-p22 chromosome. Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. We also report the prevalence of RPS 19 mutations in the Italian DBA population, as shown by an analysis of 56 patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. 
blackfan anemia (dba) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. . genes encoding ribosomal proteins have been associated to dba: after rps19 , mutations in genes rps24 and rps17 were recently identified in a fraction of the patients. . 25% of patients with diamond-blackfan anaemia 19q13 gene mutation was detected , and recent findings suggest another gene located on 8p23.3-p22 chromosome. . transgenic mouse model demonstrates a dominant negative effect of a point mutation in the rps19 gene associated with diamond-blackfan anemia . also report the prevalence of rps 19 mutations in the italian dba population , as shown by an analysis of 56 patients. . in the gene encoding ribosomal protein (rp) s19 have recently been found in 25% of patients with either the dominant or the sporadic form. . 
Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes.
three genes encoding ribosomal proteins have been associated to dba: after rps19, mutations in genes rps24 and rps17 were recently identified in a fraction of the patients.
Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients. Currently two genes are associated with the DBA phenotype--the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in approximately 1.4% of DBA patients. As a proof of concept, we designed a multiplex ligation-dependent probe amplification assay targeted to screen the six genes that are most frequently mutated in Diamond-Blackfan anemia patients: RPS17, RPS19, RPS26, RPL5, RPL11, and RPL35A. We sequenced GATA-1 in 23 patients that were negative for mutations in the most frequently mutated DBA genes. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. More than a decade has passed since the initial identification of ribosomal protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a hematologic disorder that became the founding member of a class of diseases known as ribosomopathies. In this study, nine Korean DBA patients were screened for mutations in eight known DBA genes (RPS19, RPS24, RPS17, RPS10, RPS26, RPL35A, RPL5 and RPL11) using the direct sequencing method.
Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.