eJHaem (Feb 2022)
Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond‐Blackfan anaemia
- Akie Kobayashi,
- Ryusei Ohtaka,
- Tsutomu Toki,
- Junichi Hara,
- Hideki Muramatsu,
- Rika Kanezaki,
- Yuka Takahashi,
- Tomohiko Sato,
- Takuya Kamio,
- Ko Kudo,
- Shinya Sasaki,
- Taro Yoshida,
- Taiju Utsugisawa,
- Hitoshi Kanno,
- Kenichi Yoshida,
- Yasuhito Nannya,
- Yoshiyuki Takahashi,
- Seiji Kojima,
- Satoru Miyano,
- Seishi Ogawa,
- Kiminori Terui,
- Etsuro Ito
Affiliations
- Akie Kobayashi
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Ryusei Ohtaka
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Tsutomu Toki
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Junichi Hara
- Department of Pediatric Hematology and Oncology Osaka City General Hospital Osaka Japan
- Hideki Muramatsu
- Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan
- Rika Kanezaki
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Yuka Takahashi
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Tomohiko Sato
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Takuya Kamio
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Ko Kudo
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Shinya Sasaki
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Taro Yoshida
- Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan
- Taiju Utsugisawa
- Department of Transfusion Medicine and Cell Processing Faculty of Medicine Tokyo Women's Medical University Tokyo Japan
- Hitoshi Kanno
- Department of Transfusion Medicine and Cell Processing Faculty of Medicine Tokyo Women's Medical University Tokyo Japan
- Kenichi Yoshida
- Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan
- Yasuhito Nannya
- Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan
- Yoshiyuki Takahashi
- Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan
- Seiji Kojima
- Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan
- Satoru Miyano
- M&D Data Science Center Tokyo Medical and Dental University Tokyo Japan
- Seishi Ogawa
- Department of Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan
- Kiminori Terui
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- Etsuro Ito
- Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan
- DOI
- https://doi.org/10.1002/jha2.374
- Journal volume & issue
-
Vol. 3,
no. 1
pp. 163 – 167
Abstract
Abstract 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.
Keywords
- Diamond‐Blackfan anaemia (DBA)
- dyserythropoietic anaemia
- GATA1
- inherited bone marrow failure syndrome (IBMFS)
- intronic mutation
