Human Genome Variation (Mar 2023)
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
- Erina Nakahara,
- Keiko Shimojima Yamamoto,
- Hiromi Ogura,
- Takako Aoki,
- Taiju Utsugisawa,
- Kenko Azuma,
- Hiroyuki Akagawa,
- Kenichiro Watanabe,
- Michiko Muraoka,
- Fumihiko Nakamura,
- Michi Kamei,
- Koji Tatebayashi,
- Jun Shinozuka,
- Takahisa Yamane,
- Makoto Hibino,
- Yoshiya Katsura,
- Sonoko Nakano-Akamatsu,
- Norimitsu Kadowaki,
- Yoshiro Maru,
- Etsuro Ito,
- Shouichi Ohga,
- Hiroshi Yagasaki,
- Ichiro Morioka,
- Toshiyuki Yamamoto,
- Hitoshi Kanno
Affiliations
- Erina Nakahara
- Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
- Keiko Shimojima Yamamoto
- Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
- Hiromi Ogura
- Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
- Takako Aoki
- Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
- Taiju Utsugisawa
- Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
- Kenko Azuma
- Institute for Comprehensive Medical Sciences, Tokyo Women’s Medical University
- Hiroyuki Akagawa
- Institute for Comprehensive Medical Sciences, Tokyo Women’s Medical University
- Kenichiro Watanabe
- Department of Hematology and Oncology, Shizuoka Children’s Hospital
- Michiko Muraoka
- Department of Pediatrics, Fukuyama Medical Center
- Fumihiko Nakamura
- Department of Laboratory Medicine, Nara Prefecture General Medical Center
- Michi Kamei
- Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences
- Koji Tatebayashi
- Department of Neonatology, Gifu Prefectural General Medical Center
- Jun Shinozuka
- Department of Pediatrics, Uji-Tokushukai Medical Center
- Takahisa Yamane
- Department of Hematology, Osaka City General Hospital
- Makoto Hibino
- Department of Respiratory Medicine, Shonan Fujisawa Tokushukai Hospital
- Yoshiya Katsura
- Department of Metabolism and Endocrinology, Tokyo Medical University Ibaraki Medical Center
- Sonoko Nakano-Akamatsu
- Department of Hematology, Omihachiman Community Medical Center
- Norimitsu Kadowaki
- Department of Internal Medicine, Division of Hematology, Rheumatology and Respiratory Medicine, Faculty of Medicine, Kagawa University
- Yoshiro Maru
- Department of Pharmacology, Tokyo Women’s Medical University
- Etsuro Ito
- Department of Pediatrics, Hirosaki University Graduate School of Medicine
- Shouichi Ohga
- Department of Pediatrics, Kyushu University Graduate School of Medical Sciences
- Hiroshi Yagasaki
- Department of Pediatrics and Child Health, Nihon University School of Medicine
- Ichiro Morioka
- Department of Pediatrics and Child Health, Nihon University School of Medicine
- Toshiyuki Yamamoto
- Institute for Comprehensive Medical Sciences, Tokyo Women’s Medical University
- Hitoshi Kanno
- Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University
- DOI
- https://doi.org/10.1038/s41439-023-00235-y
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 6
Abstract
Abstract Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported. We analyzed the genomic background of 23 patients from 20 Japanese families suspected of having DHSt using a target capture sequence and identified pathogenic/likely pathogenic variants of PIEZO1 or KCNN4 in 12 families.
