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韩国克拉贝病患者的临床特征,GALC变异谱和基因型-表型相关性:超过13年的多中心经验

Narae Hwang¹, Sang-Mi Kim¹, Young-Gon Kim¹

¹Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Clinical genetics

|March 22, 2024

概括

韩国人的克拉贝病 (KD) 呈现出独特的遗传特征,成人发病是最常见的形式. 这项研究强调了与其他族群相比,GALC基因变异的差异.

科学领域:

遗传学是一个遗传学.
神经退行性疾病神经退行性疾病
生物化学生物化学

背景情况:

克拉贝病 (KD) 是一种遗传性神经退行性疾病,源于银河大脑酶 (GALC) 缺乏.
在GALC基因的遗传变异是KD的根本原因.
了解特定种族特征对于KD诊断和管理至关重要.

研究的目的:

在韩国人口中对Krabbe病的临床和遗传特征进行全面分析.
为了比较韩国KD患者与其他种族群体的基因型-表型相关性.
在韩国识别KD的独特遗传变异和表型表现.

主要方法:

对10名新诊断的韩国KD患者的GALC基因测序,生物化学测定,神经成像和神经生理学测试的分析.
包括之前报告的9例韩国KD病例,共计18名患者.
与全球KD患者数据进行比较分析.

主要成果:

韩国患者中KD发病的中位数年龄为2岁,成人发病KD (33%) 是最常见的表型,其次是婴儿KD (28%).
鉴定到的最常见的GALC变异是c.683_694delinsCTC和c.1901T>C (每一个为23%);30kb的删除显著缺失.
存在两种异构性致病性误解变异,与晚期出现的表型相关.

结论:

与高加索人相比,韩国KD人口呈现出明显的GALC变异谱,其中成年开始的KD占主导地位.
韩国人KD的临床特征在很大程度上与其他族群一致,尽管有遗传差异.
这项研究增强了对跨种族的KD遗传和临床多样性的理解.

关键词:

在GALC的变体中,GALC的变体.病是病的一种疾病.galaktocerebrosidase/galactosylceramidase 银河系大脑化酶/银河系化酶/银河系化酶/银河系化酶基因型表型基因型表型球状细胞白血病变异性

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