Molecular dynamics insights into novel and nano-rare de novo mutations in the ribosomal proteins S19 and L26 causing Diamond-Blackfan anemia in Iranian patients.

Abstract excerpt

Diamond-Blackfan anemia syndrome (DBAS) is a rare congenital ribosomopathy characterized by erythroid hypoplasia, congenital anomalies and increased malignancy risk. Although pathogenic variants in RPS19 are the most frequent cause of DBAS, mutations in RPL26 remain exceedingly rare. Here, we identified two novel de novo variants in unrelated Iranian patients: a frameshift mutation in RPL26 (c.36_39del,...

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