Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is 
usually diagnosed during early infancy. Apart from defects in red blood cell 
maturation, the disorder is also associated with various physical anomalies in 
40% of patients. Mutations in the ribosomal protein (RP) S19 are found in 25% of 
patients, while mutations in other proteins of the small ribosomal 
subunit--RPS17 and RPS24--have been found in a fraction of patients. Recently, 
mutations in RPL5, RPL11, and RPL35a of the large ribosomal subunit have also 
been reported in several DBA patients. Here, we present the identification of 
mutations in the RPL5 and RPL11 genes in patients from the Czech DBA Registry. 
Mutations in RPL5 were identified in eight patients from 6 out of 28 families 
(21.4%), and mutations in RPL11 in two patients from 2 out of 28 families 
(7.1%). Interestingly, all 10 patients with either an RPL5 or RPL11 mutation 
exhibited one or more physical anomalies; specifically, thumb anomalies (flat 
thenar) were always present, while no such anomaly was observed in seven 
patients with an RPS19 mutation. Moreover, 9 out of 10 patients with either an 
RPL5 or RPL11 mutation were born small for gestational age (SGA) compared to 3 
out of 7 patients from the RPS19-mutated group. These observations may suggest 
that mutations, at least in RPL5, seem to generally have more profound impact on 
fetal development than mutations in RPS19. Since RPL5 and RPL11, together with 
RPL23, are also involved in the MDM2-mediated p53 pathway regulation, we also 
screened the RPL23 gene for mutations; however, no mutations were identified.