RGD Reference Report - High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. - Rat Genome Database

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High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

Authors: Quarello, P  Garelli, E  Brusco, A  Carando, A  Mancini, C  Pappi, P  Vinti, L  Svahn, J  Dianzani, I  Ramenghi, U 
Citation: Quarello P, etal., Haematologica. 2012 Dec;97(12):1813-7. doi: 10.3324/haematol.2012.062281. Epub 2012 Jun 11.
RGD ID: 11535072
Pubmed: PMID:22689679   (View Abstract at PubMed)
PMCID: PMC3590087   (View Article at PubMed Central)
DOI: DOI:10.3324/haematol.2012.062281   (Journal Full-text)

Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine ribosomal protein encoding genes. Because most mutations are loss of function and detected by direct sequencing of coding exons, we reasoned that part of the approximately 50% mutation negative patients may have carried a copy number variant of ribosomal protein genes. As a proof of concept, we designed a multiplex ligation-dependent probe amplification assay targeted to screen the six genes that are most frequently mutated in Diamond-Blackfan anemia patients: RPS17, RPS19, RPS26, RPL5, RPL11, and RPL35A. Using this assay we showed that deletions represent approximately 20% of all mutations. The combination of sequencing and multiplex ligation-dependent probe amplification analysis of these six genes allows the genetic characterization of approximately 65% of patients, showing that Diamond-Blackfan anemia is indisputably a ribosomopathy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Diamond-Blackfan anemia 5  IAGP 11535072DNA:deletions and duplication:multiple (human)RGD 
Diamond-Blackfan anemia 5  ISORPL35A (Homo sapiens)11535072; 11535072DNA:deletions and duplication:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Erythroid hypoplasia  IAGP 11535072DNA:deletions and duplication:multiple (human)RGD 
Macrocytic anemia  IAGP 11535072DNA:deletions and duplication:multiple (human)RGD 
Reticulocytopenia  IAGP 11535072DNA:deletions and duplication:multiple (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Rpl35a  (ribosomal protein L35A)

Genes (Mus musculus)
Rpl35a  (ribosomal protein L35A)

Genes (Homo sapiens)
RPL35A  (ribosomal protein L35a)


Additional Information