Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.

ABSTRACT:

Background

Diamond-Blackfan anemia (DBA), a congenital pure red cell aplasia (PRCA), is characterized by normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. DBA10, a subset of DBA, is an autosomal dominant disease caused by a mutation in RPS26. So far, there are 30 disease-causing variants in RPS26 being reported, however, only three of them are small insert mutations.

Case presentation

Here we report a three-month Chinese boy who presents with anemia from postnatal day 2. He was suspected to have Diamond-Blackfan anemia, according to the clinical result. Thus, whole-exome sequencing was performed for precise diagnosis.

Conclusion

Here, a novel insert mutation c.96dupG in RPS26 was identified by whole-exome se

SUBMITTER: Shi X 

PROVIDER: S-EPMC6612111 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature