title: The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
abstract: Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, Sweden.
authors.forename: N
authors.initials: N
authors.lastname: Draptchinskaia
authors.forename: P
authors.initials: P
authors.lastname: Gustavsson
authors.forename: B
authors.initials: B
authors.lastname: Andersson
authors.forename: M
authors.initials: M
authors.lastname: Pettersson
authors.forename: T N
authors.initials: TN
authors.lastname: Willig
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: S
authors.initials: S
authors.lastname: Ball
authors.forename: G
authors.initials: G
authors.lastname: Tchernia
authors.forename: J
authors.initials: J
authors.lastname: Klar
authors.forename: H
authors.initials: H
authors.lastname: Matsson
authors.forename: D
authors.initials: D
authors.lastname: Tentler
authors.forename: N
authors.initials: N
authors.lastname: Mohandas
authors.forename: B
authors.initials: B
authors.lastname: Carlsson
authors.forename: N
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000595:Amino Acid Sequence; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003360:Cosmids; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012269:Ribosomal Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics