日本脱水型遗传性口腔细胞增多症患者 PIEZO1 和 KCNN4 的变异谱。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-03-02 DOI:10.1038/s41439-023-00235-y

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

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引用次数: 0

摘要

遗传性口腔细胞增多症（HSt）是一种先天性溶血性贫血，是由红细胞膜阳离子通透性异常增高引起的。脱水性 HSt（DHSt）是 HSt 最常见的亚型，根据与红细胞有关的临床和实验室结果进行诊断。PIEZO1 和 KCNN4 已被确认为致病基因，许多相关变异也有报道。我们使用目标捕获序列分析了来自 20 个日本家庭的 23 名疑似 DHSt 患者的基因组背景，并在 12 个家庭中发现了 PIEZO1 或 KCNN4 的致病/可能致病变异。

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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 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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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks