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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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
Descripción
Sumario: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.

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