Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia

eJHaem

article

Akie Kobayashi¹  Ryusei Ohtaka¹  Tsutomu Toki¹  Junichi Hara²  Hideki Muramatsu³  Rika Kanezaki¹  Yuka Takahashi¹  Tomohiko Sato¹  Takuya Kamio¹  Ko Kudo¹  Shinya Sasaki¹  Taro Yoshida³  Taiju Utsugisawa⁴  Hitoshi Kanno⁴  Kenichi Yoshida⁵  Yasuhito Nannya⁵  Yoshiyuki Takahashi³  Seiji Kojima³  Satoru Miyano⁷  Seishi Ogawa⁵  Kiminori Terui¹  Etsuro Ito¹ 

[1] Department of Pediatrics, Hirosaki University Graduate School of Medicine;Department of Pediatric Hematology and Oncology, Osaka City General Hospital;Department of Pediatrics, Nagoya University Graduate School of Medicine;Department of Transfusion Medicine and Cell Processing, Faculty of Medicine, Tokyo Women's Medical University;Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University;Division of Hematopoietic Disease Control, Institute of Medical Science, The University of Tokyo;M&D Data Science Center, Tokyo Medical and Dental University;Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institute;Department of Community Medicine, Hirosaki University Graduate School of Medicine

关键词: Diamond-Blackfan anaemia (DBA);    dyserythropoietic anaemia;    GATA1;    inherited bone marrow failure syndrome (IBMFS);    intronic mutation;   

DOI  :  10.1002/jha2.374

来源: Wiley

【 摘 要 】

Diamond-Blackfan anaemia (DBA) shares clinical features with two recently reported sporadic cases of dyserythropoietic anaemia with a cryptic GATA1 splicing mutation (c.871-24 C>T). We hypothesized that some patients clinically diagnosed with DBA but whose causative genes were unknown may carry the intronic GATA1 mutation. Here, we examined 79 patients in our DBA cohort, who had no detectable causative genes. The intronic GATA1 mutation was identified in two male patients sharing the same pedigree that included multiple cases with anaemia. Cosegregation of this mutation and disease in multiple family members provide evidence to support the pathogenicity of the intronic GATA1 mutation.

【 授权许可】

Unknown