Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
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<jats:title>Abstract</jats:title><jats:p>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. <jats:italic>PIEZO1</jats:italic> and <jats:italic>KCNN4</jats:italic> 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 <jats:italic>PIEZO1</jats:italic> or <jats:italic>KCNN4</jats:italic> in 12 families.</jats:p>
収録刊行物
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- Human Genome Variation
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Human Genome Variation 10 (1), 2023-03-02
Springer Science and Business Media LLC