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Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.

Makiko TominagaSatoshi HamanoueHiroaki GotoToshiyuki SaitoJun-Ichi NagaiMitsuo MasunoYou UmedaKenji Kurosawa
Published in: Human genome variation (2019)
Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest that RPL5 haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations.
Keyphrases
  • iron deficiency
  • chronic kidney disease
  • case report
  • genome wide
  • copy number
  • protein protein
  • genome wide identification
  • amino acid
  • binding protein
  • dna methylation
  • gene expression
  • small molecule
  • drug induced