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

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

doi:10.1038/s41439-019-0067-5

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.

Highlights

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
Correspondence: Kenji Kurosawa 1Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan 2Children’s Medical Center, Showa University Northern Yokohama Hospital, Yokohama, Japan Full list of author information is available at the end of the article
At the age of 6 years, she was noted as having mild anemia: hemoglobin (Hb), 10.5 g/dL; mean corpuscular volume (MCV), 89 fL; mean corpuscular hemoglobin (MCH), 30.2 pg; white blood cell (WBC) count, 5500/cumm; and platelet count, 32.2 × 104

Summary

Introduction

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. Correspondence: Kenji Kurosawa (kkurosawa@kcmc.jp) 1Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan 2Children’s Medical Center, Showa University Northern Yokohama Hospital, Yokohama, Japan Full list of author information is available at the end of the article. At her first visit to our genetics clinic at 3 years of age, her weight and height were 11.1 kg (−1.2 SD) and 84.4 cm (−2.3 SD), respectively, with an OFC of 52.4 cm ( + 2.5 SD).

Results

Conclusion