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

ABSTRACT:

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. RPS14 was also examined due to its implied involvement in 5q- syndrome.

Results

Mutations in RPS19, RPL5, RPL11 and RPS17

SUBMITTER: Konno Y 

PROVIDER: S-EPMC2913077 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature