Format

Send to

Choose Destination
Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2.

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Author information

1
Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA. hanna.gazda@childrens.harvard.edu

Abstract

Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.

PMID:
17186470
PMCID:
PMC1698708
DOI:
10.1086/510020
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center