Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Makiko Tominaga; Satoshi Hamanoue; Hiroaki Goto; Toshiyuki Saito; Jun-Ichi Nagai; Mitsuo Masuno; You Umeda; Kenji Kurosawa

doi:10.1038/s41439-019-0067-5

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Hum Genome Var. 2019 Aug 8:6:36. doi: 10.1038/s41439-019-0067-5. eCollection 2019.

Authors

Makiko Tominaga^{1

2}, Satoshi Hamanoue³, Hiroaki Goto³, Toshiyuki Saito⁴, Jun-Ichi Nagai⁴, Mitsuo Masuno⁵, You Umeda², Kenji Kurosawa¹

Affiliations

¹ 1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
² 2Children's Medical Center, Showa University Northern Yokohama Hospital, Yokohama, Japan.
³ 3Division of Hematology and Oncology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁴ 4Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan.
⁵ 5Genetic Counseling Program, Kawasaki University of Medical Welfare, Kurashiki, Japan.

Abstract

Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest that RPL5 haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations.

Keywords: Anaemia; Genetics research.