ORPHA: 124; DO: 0111880;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q21.3 | ?Diamond-Blackfan anemia 17 | 617409 | Autosomal dominant | 3 | RPS27 | 603702 |
A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-17 (DBA17) is caused by heterozygous mutation in the RPS27 gene (603702) on chromosome 1q21. One such patient has been reported.
For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
Wang et al. (2015) studied a 4-year-old Japanese girl (patient 42) who was diagnosed with Diamond-Blackfan anemia at 2 months of age. She had no other abnormalities except for skin pigmentation, and she responded to steroid treatment. There was no family history of anemia.
In 48 Japanese patients with DBA in whom screening for mutations or large deletions in 8 of the known DBA-associated genes was negative, Wang et al. (2015) performed whole-exome sequencing and identified heterozygosity for a 1-bp deletion in the RPS27 gene (603702.0001) in an affected 4-year-old girl (patient 42).
Wang, R., Yoshida, K., Toki, T., Sawada, T., Uechi, T., Okuno, Y., Sato-Otsubo, A., Kudo, K., Kamimaki, I., Kanezaki, R., Shiraishi, Y., Chiba, K., and 21 others. Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia. Brit. J. Haemat. 168: 854-864, 2015. [PubMed: 25424902] [Full Text: https://doi.org/10.1111/bjh.13229]