Using a candidate gene strategy combining high-resolution genomic mapping and gene expression microarray, Farrar et al. (2008) analyzed the chromosome 3q29-qter and 3q29 deletions, respectively, from a 9-year-old boy and an unrelated 7-week-old girl with Diamond-Blackfan anemia, and ... Using a candidate gene strategy combining high-resolution genomic mapping and gene expression microarray, Farrar et al. (2008) analyzed the chromosome 3q29-qter and 3q29 deletions, respectively, from a 9-year-old boy and an unrelated 7-week-old girl with Diamond-Blackfan anemia, and identified RPL35A (180468) as a potential DBA gene. The authors then screened genomic DNA from 148 additional probands with DBA, including 11 probands with known mutations in RPS19 (603474) and 3 with known mutations in RPS24 (602412); 3 mutations were identified in the RPL35A gene in 1 familial (180468.0001) and 2 sporadic cases (180468.0002 and 180468.0003, respectively), for an estimated 3.3% rate of RPL35A abnormalities in DBA probands. In the familial case, the mutation was also found in the proband's father and sister, who had untreated macrocytic anemia suggestive of subclinical DBA. None of the mutations were found in 180 normal controls.