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

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.