title: Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
abstract: Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.
authors.affiliation: Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA. hanna.gazda@childrens.harvard.edu
authors.forename: Hanna T
authors.initials: HT
authors.lastname: Gazda
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Grabowska
authors.forename: Lilia B
authors.initials: LB
authors.lastname: Merida-Long
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Latawiec
authors.forename: Hal E
authors.initials: HE
authors.lastname: Schneider
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Lipton
authors.forename: Adrianna
authors.initials: A
authors.lastname: Vlachos
authors.forename: Eva
authors.initials: E
authors.lastname: Atsidaftos
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Ball
authors.forename: Karen A
authors.initials: KA
authors.lastname: Orfali
authors.forename: Edyta
authors.initials: E
authors.lastname: Niewiadomska
authors.forename: Lydie
authors.initials: L
authors.lastname: Da Costa
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Charlotte
authors.initials: C
authors.lastname: Niemeyer
authors.forename: Joerg J
authors.initials: JJ
authors.lastname: Meerpohl
authors.forename: Joachim
authors.initials: J
authors.lastname: Stahl
authors.forename: Gerhard
authors.initials: G
authors.lastname: Schratt
authors.forename: Bertil
authors.initials: B
authors.lastname: Glader
authors.forename: Karen
authors.initials: K
authors.lastname: Backer
authors.forename: Carolyn
authors.initials: C
authors.lastname: Wong
authors.forename: David G
authors.initials: DG
authors.lastname: Nathan
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.forename: Colin A
authors.initials: CA
authors.lastname: Sieff
mesh_terms: D017398:Alternative Splicing; D029503:Anemia, Diamond-Blackfan / Q000235:genetics*; D001483:Base Sequence; D001854:Bone Marrow Cells / Q000166:cytology / Q000502:physiology; D016022:Case-Control Studies; D002478:Cells, Cultured; D005260:Female; D005786:Gene Expression Regulation; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012016:Reference Values; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism; D012270:Ribosomes / Q000235:genetics / Q000378:metabolism
chemical_list: C489053:RPS24 protein, human; D012269:Ribosomal Proteins; C040343:ribosomal protein S19