Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the RPL11 gene

초록

Introduction Diamond-Blackfan anemia (DBA) is a rare disease characterized by macrocytic anemia and congenital malformations. Methods We present a familial case of DBA caused by a novel variant in the RPL11 gene. The proband was an 11-month-old Korean boy with macrocytic anemia and erythroid hypoplasia in bone marrow. He had a cleft palate and congenital heart defects. Results Massively parallel sequencing analysis identified a novel heterozygous variant, NM_000975.3(RPL11):c.157+1G>C. Laboratory investigation revealed that the father carried the same variant. Discussion This report expands our understanding of the intrafamilial variability of DBA. It also highlights the importance of massively parallel sequencing in pediatric patients with anemia.

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