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.

中文翻译：

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日本脱水遗传性口形红细胞增多症患者 PIEZO1 和 KCNN4 的变异谱

遗传性口形红细胞增多症（HSt）是一种先天性溶血性贫血，由红细胞膜阳离子通透性异常增高引起。脱水 HSt (DHSt) 是最常见的 HSt 亚型，根据与红细胞相关的临床和实验室发现进行诊断。PIEZO1和KCNN4已被确认为致病基因，并且已报道了许多相关变异。我们使用目标捕获序列分析了来自 20 个怀疑患有 DHSt 的日本家庭的 23 名患者的基因组背景，并在 12 个家庭中鉴定了PIEZO1或KCNN4的致病/可能致病变异。