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http://purl.uniprot.org/citations/19773262http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/19773262http://www.w3.org/2000/01/rdf-schema#comment"

Background

Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients.

Design and methods

In this genotype-phenotype analysis we screened the coding sequence and intron-exon boundaries of RPS14, RPS16, RPS24, RPL5, RPL11, and RPL35A in 92 Italian patients with Diamond-Blackfan anemia who were negative for RPS19 mutations.

Results

About 20% of the patients screened had mutations in RPL5 or RPL11, and only 1.6% in RPS24. All but three mutations that we report here are new mutations. No mutations were found in RPS14, RPS16, or RPL35A. Remarkably, we observed a higher percentage of somatic malformations in patients with RPL5 and RPL11 mutations. A close association was evident between RPL5 mutations and craniofacial malformations, and between hand malformations and RPL11 mutations.

Conclusions

Mutations in four ribosomal proteins account for around 50% of all cases of Diamond-Blackfan anemia in Italian patients. Genotype-phenotype data suggest that mutation screening should begin with RPL5 and RPL11 in patients with Diamond-Blackfan anemia with malformations."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.org/dc/terms/identifier"doi:10.3324/haematol.2009.011783"xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Brusco A."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Dufour C."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Ramenghi U."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Dianzani I."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Garelli E."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Longoni D."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Loreni F."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Aspesi A."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Carando A."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Quarello P."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Calabrese R."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Misuraca A."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Biondini L."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/author"Vinti L."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/name"Haematologica"xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/pages"206-213"xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/title"Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations."xsd:string
http://purl.uniprot.org/citations/19773262http://purl.uniprot.org/core/volume"95"xsd:string
http://purl.uniprot.org/citations/19773262http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/19773262
http://purl.uniprot.org/citations/19773262http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/19773262
http://purl.uniprot.org/uniprot/#_A0A2R8Y849-mappedCitation-19773262http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/19773262
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