RGD Reference Report - Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.

Authors: Delaporta, P  Sofocleous, C  Stiakaki, E  Polychronopoulou, S  Economou, M  Kossiva, L  Kostaridou, S  Kattamis, A 
Citation: Delaporta P, etal., Pediatr Blood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183. Epub 2014 Aug 17.
RGD ID: 11535128
Pubmed: PMID:25132370   (View Abstract at PubMed)
DOI: DOI:10.1002/pbc.25183   (Journal Full-text)

BACKGROUND: Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our findings from the study of 17 patients recorded in the Greek DBA registry. PROCEDURE: Clinical evaluation of patients and data collection was performed followed by the molecular analysis of RPS19, RPL5, and RPL11 genes. Mutation screening included PCR amplification, ECMA analysis, and direct sequencing. RESULTS: Congenital anomalies were observed in 71% of the patients. Six patients (35.2%) were found to carry mutations on either the RPS19 gene (three patients,) or the RPL5 gene (three patients). Mutations c.C390G (p.Y130X) and c.197_198insA (p.Y66X) detected in the RPL5 gene were novel. No mutations at the RPL11 gene were identified in Greek patients with DBA. CONCLUSIONS: The clinical course of the patients was similar to previous reports. The occurrence of thyroid carcinoma in an adult patient with DBA is the first to be reported in DBA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Diamond-Blackfan anemia 6  IAGP 11535128DNA:insertion more ...RGD 
Diamond-Blackfan anemia 6  ISORPL5 (Homo sapiens)11535128; 11535128DNA:insertion more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Erythroid hypoplasia  IAGP 11535128DNA:insertion more ...RGD 
Macrocytic anemia  IAGP 11535128DNA:insertion more ...RGD 
Reticulocytopenia  IAGP 11535128DNA:insertion more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Rpl5  (ribosomal protein L5)

Genes (Mus musculus)
Rpl5  (ribosomal protein L5)

Genes (Homo sapiens)
RPL5  (ribosomal protein L5)


Additional Information