Laboratory medicine · 2025
Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the RPL11 gene.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Kim Boram, Kim Hyun-Young, Woo Suhyeon, Yoo Keon Hee, Kim Hee-Jin
Аннотация
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.
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.