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Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981561/ https://www.ncbi.nlm.nih.gov/pubmed/36864026 http://dx.doi.org/10.1038/s41439-023-00235-y |
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| author | Nakahara, Erina Yamamoto, Keiko Shimojima Ogura, Hiromi Aoki, Takako Utsugisawa, Taiju Azuma, Kenko Akagawa, Hiroyuki Watanabe, Kenichiro Muraoka, Michiko Nakamura, Fumihiko Kamei, Michi Tatebayashi, Koji Shinozuka, Jun Yamane, Takahisa Hibino, Makoto Katsura, Yoshiya Nakano-Akamatsu, Sonoko Kadowaki, Norimitsu Maru, Yoshiro Ito, Etsuro Ohga, Shouichi Yagasaki, Hiroshi Morioka, Ichiro Yamamoto, Toshiyuki Kanno, Hitoshi |
| author_facet | Nakahara, Erina Yamamoto, Keiko Shimojima Ogura, Hiromi Aoki, Takako Utsugisawa, Taiju Azuma, Kenko Akagawa, Hiroyuki Watanabe, Kenichiro Muraoka, Michiko Nakamura, Fumihiko Kamei, Michi Tatebayashi, Koji Shinozuka, Jun Yamane, Takahisa Hibino, Makoto Katsura, Yoshiya Nakano-Akamatsu, Sonoko Kadowaki, Norimitsu Maru, Yoshiro Ito, Etsuro Ohga, Shouichi Yagasaki, Hiroshi Morioka, Ichiro Yamamoto, Toshiyuki Kanno, Hitoshi |
| author_sort | Nakahara, Erina |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-9981561 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-99815612023-03-04 Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis Nakahara, Erina Yamamoto, Keiko Shimojima Ogura, Hiromi Aoki, Takako Utsugisawa, Taiju Azuma, Kenko Akagawa, Hiroyuki Watanabe, Kenichiro Muraoka, Michiko Nakamura, Fumihiko Kamei, Michi Tatebayashi, Koji Shinozuka, Jun Yamane, Takahisa Hibino, Makoto Katsura, Yoshiya Nakano-Akamatsu, Sonoko Kadowaki, Norimitsu Maru, Yoshiro Ito, Etsuro Ohga, Shouichi Yagasaki, Hiroshi Morioka, Ichiro Yamamoto, Toshiyuki Kanno, Hitoshi Hum Genome Var Article 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. Nature Publishing Group UK 2023-03-02 /pmc/articles/PMC9981561/ /pubmed/36864026 http://dx.doi.org/10.1038/s41439-023-00235-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Article Nakahara, Erina Yamamoto, Keiko Shimojima Ogura, Hiromi Aoki, Takako Utsugisawa, Taiju Azuma, Kenko Akagawa, Hiroyuki Watanabe, Kenichiro Muraoka, Michiko Nakamura, Fumihiko Kamei, Michi Tatebayashi, Koji Shinozuka, Jun Yamane, Takahisa Hibino, Makoto Katsura, Yoshiya Nakano-Akamatsu, Sonoko Kadowaki, Norimitsu Maru, Yoshiro Ito, Etsuro Ohga, Shouichi Yagasaki, Hiroshi Morioka, Ichiro Yamamoto, Toshiyuki Kanno, Hitoshi Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis |
| title | Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis |
| title_full | Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis |
| title_fullStr | Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis |
| title_full_unstemmed | Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis |
| title_short | Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis |
| title_sort | variant spectrum of piezo1 and kcnn4 in japanese patients with dehydrated hereditary stomatocytosis |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981561/ https://www.ncbi.nlm.nih.gov/pubmed/36864026 http://dx.doi.org/10.1038/s41439-023-00235-y |
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