Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

Yuki Konno, Tsutomu Toki, Satoru Tandai, Gang Xu, Ru Nan Wang, Kiminori Terui, Shouichi Ohga, Toshiro Hara, Asahito Hama, Seiji Kojima, Daiichiro Hasegawa, Yoshiyuki Kosaka, Ryu Yanagisawa, Kenichi Koike, Rie Kanai, Tsuyoshi Imai, Teruaki Hongo, Myoung Ja Park, Kanji Sugita, Etsuro Ito

Research output: Contribution to journalArticlepeer-review

36 Citations (Scopus)


Background Diamond-Blackfan anemia is a rare, clinically heterogeneous, congenital red cell aplasia: 40% of patients have congenital abnormalities. Recent studies have shown that in western countries, the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes in about 50% of patients. There have been no studies to determine the incidence of these mutations in Asian patients with Diamond-Blackfan anemia. Design and Methods We screened 49 Japanese patients with Diamond-Blackfan anemia (45 probands) for mutations in the six known genes associated with Diamond-Blackfan anemia: RPS19, RPS24, RPS17, RPL5, RPL11, and RPL35A. RPS14was also examined due to its implied involvement in 5q- syndrome. Results Mutations in RPS19, RPL5, RPL11 and RPS17 were identified in five, four, two and one of the probands, respectively. In total, 12 (27%) of the Japanese Diamond-Blackfan anemia patients had mutations in ribosomal protein genes. No mutations were detected in RPS14, RPS24 or RPL35A. All patients with RPS19 and RPL5 mutations had physical abnormalities. Remarkably, cleft palate was seen in two patients with RPL5 mutations, and thumb anomalies were seen in six patients with an RPS19 or RPL5 mutation. In contrast, a small-for-date phenotype was seen in five patients without an RPL5 mutation. Conclusions We observed a slightly lower frequency of mutations in the ribosomal protein genes in patients with Diamond-Blackfan anemia compared to the frequency reported in western countries. Genotype-phenotype data suggest an association between anomalies and RPS19 mutations, and a negative association between small-for-date phenotype and RPL5 mutations.

Original languageEnglish
Pages (from-to)1293-1299
Number of pages7
Issue number8
Publication statusPublished - 2010

All Science Journal Classification (ASJC) codes

  • Hematology


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