Diamond-Blackfan Anemia 16

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

GATA1, RPS19, RPS24, RPS17, ADA2, RPL27, RPL26, RPL15, RPS27, RPS29, RPL35, TSR2, RPL18, RPL11, RPL5, RPS28, RPL35A, RPS7, RPS26, EPO, RPS10, RPL9, RPL31, RPS27A, RPL19, RPL36, RPL13, RPS15A, RPL23, RPS15, FLVCR1, TP53, RPSA, IQCG, DIPK1A, CD34, RPS14, LOH19CR1, ADA, KITLG, THPO, CSDE1, SBDS, HSPA4, IL3, RPL41, AHSA1, LEFTY1, KLF1, FLI1, GABARAPL2, GABARAPL1, BAMBI, RNF19A, CSF2, GRAP2, POLDIP2, MAPK14, CRK, MTUS1, COL3A1, CDA, DBA2, CD38, PRMT3, DDX21, LONP1, FPR2, TRIM27, MAPK8, MAPK1, PIM1, SERPINE1, RPS21, LRPAP1, LEP, IL9, IL1B, TFRC, TNF, CNBP, AIMP2, XRS, HBB, RMRP, TEC

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-16 (DBA16) is caused by heterozygous mutation in the RPL27 gene (607526) on chromosome 17q21. One such patient has been reported.

For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Clinical Features

Wang et al. (2015) studied a 2-year-old Japanese girl (patient 95) who was diagnosed with Diamond-Blackfan anemia at birth. She also had an atrial septal defect and pulmonary stenosis. She responded to corticosteroid treatment, and she had been in remission for 2 years. There was no family history of anemia.

Molecular Genetics

In 48 Japanese patients with DBA in whom screening for mutations or large deletions in 8 of the known DBA-associated genes was negative, Wang et al. (2015) performed whole-exome sequencing and identified heterozygosity for a de novo splice site mutation in the RPL27 gene (607526.0001) in an affected 2-year-old girl (patient 95).