title: A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
abstract: Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein synthesis defect in a tissue with a high cellular turnover is considered the cause of the erythroid progenitor failure. We have created the Diamond-Blackfan Anemia mutation database to curate and record DBA gene mutations, together with their functional consequences and clinical phenotypes. This locus-specific resource is open to future submissions and is available online (http://www.dbagenes.unito.it). It is founded on the Leiden Open (source) Variation Database (LOVD) system and includes data from sequence and structure analysis tools, genomic database resources and published reports. It lists all identified variants and background genomic information. Phenotypic data are accessed by selecting a particular mutation. The database includes 219 unique variants of which 86 are disease-causing mutations. The database will be supplemented with other DBA genes as soon as they are reported and their mutations are identified and it should be of assistance to clinicians and investigators involved in DBA research and care.
authors.affiliation: Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), Università del Piemonte Orientale, Novara, Italy.
authors.forename: Ilenia
authors.initials: I
authors.lastname: Boria
authors.forename: Paola
authors.initials: P
authors.lastname: Quarello
authors.forename: Federica
authors.initials: F
authors.lastname: Avondo
authors.forename: Emanuela
authors.initials: E
authors.lastname: Garelli
authors.forename: Anna
authors.initials: A
authors.lastname: Aspesi
authors.forename: Adriana
authors.initials: A
authors.lastname: Carando
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Campagnoli
authors.forename: Irma
authors.initials: I
authors.lastname: Dianzani
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D030561:Databases, Nucleic Acid; D015894:Genome, Human; D006801:Humans; D009154:Mutation; D012269:Ribosomal Proteins / Q000235:genetics*; D014584:User-Computer Interface
chemical_list: C489053:RPS24 protein, human; D012269:Ribosomal Proteins; C040343:ribosomal protein S19