Blackfan-Diamond anemia
MIM.205900
Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies.
It is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands.
There are de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands.
DBA is a disorder of ribosome synthesis. Mutations in ribosomal proteins or associated genes lead to disrupted ribosomal biogenesis and/or function that may cause DBA.
Etiology
Locus DBA1 on Ch.19: mutations in the gene encoding ribosomal protein S19 (RPS19) (MIM.603474) on chromosome 19
Locus DBA2 on Ch.8: gene unknown (MIM.606129)
10q22-q23: germline mutations in ribosomal protein S24 gene (RPS24)
References
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2. PMID: 17186470
P.S.
MIM.205900