Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
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.
Gazda
Hanna T
HT
Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA. hanna.gazda@childrens.harvard.edu
Grabowska
Agnieszka
A
Merida-Long
Lilia B
LB
Latawiec
Elzbieta
E
Schneider
Hal E
HE
Lipton
Jeffrey M
JM
Vlachos
Adrianna
A
Atsidaftos
Eva
E
Ball
Sarah E
SE
Orfali
Karen A
KA
Niewiadomska
Edyta
E
Da Costa
Lydie
L
Tchernia
Gil
G
Niemeyer
Charlotte
C
Meerpohl
Joerg J
JJ
Stahl
Joachim
J
Schratt
Gerhard
G
Glader
Bertil
B
Backer
Karen
K
Wong
Carolyn
C
Nathan
David G
DG
Beggs
Alan H
AH
Sieff
Colin A
CA
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
C489053:RPS24 protein, human; D012269:Ribosomal Proteins; C040343:ribosomal protein S19