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

Xiaodong Shi,
Xiaolan Huang,
Yu Zhang and
Xiaodai CuiEmail author View ORCID ID profile

BMC Medical Genetics201920:120

https://doi.org/10.1186/s12881-019-0848-1

Received: 23 January 2019
Accepted: 13 June 2019
Published: 5 July 2019

Open Peer Review reports

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 sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient.