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三名患有ERCC8相关的卡凯恩综合征的患者的双结构变异,以及副本数变异分析的潜在陷

Daisuke Watanabe^1,2, Nobuhiko Okamoto³, Yuichi Kobayashi⁴

¹Center for Medical Genetics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo, 160-8582, Japan.

Scientific reports

|August 26, 2024

概括

在ERCC8中,结构变异 (SV) 导致可凯恩综合征 (CS). 这项研究使用整个外体序列测序在日本CS患者中确定了致病性SV,突出了全面分子诊断需要多种检测工具的需要.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
罕见疾病罕见疾病

背景情况:

卡凯恩综合征 (CS) 是一种罕见的自体逆向性疾病.
在ERCC8或ERCC6基因的突变导致CS.
在ERCC8中,致病变体通常是单核酸替代,但结构变体 (SV) 也会出现.

研究的目的:

在ERCC8相关的柯凯恩综合征 (CS) 的日本患者中识别致病性结构变异 (SV).
为了评估基于整个外体的副本数变异 (CNV) 检测工具的性能,用于SV识别.

主要方法:

在三名日本CS患者身上进行了全外体测序 (WES).
基于整个外体的副本数变异 (CNV) 检测工具被用于识别SVs.
用337名健康个体的WES数据评估了四种CNV检测工具的分析性能.

主要成果:

在ERCC8中确定了三名日本CS患者的因果性SV.
一名患者因大缺失和4号外基因缺失 (亚洲特异性) 出现复合异性.
两名患者在4号外因子删除方面均,仅通过ExomeDepth软件检测到.
对337名健康个体的分析显示,95.1%的受影响的外型被四种CNV工具中的仅一个检测到.

结论:

在ERCC8相关的CS中全面的SV分子检测仍然具有挑战性.
建议使用多个基于整个外体的CNV检测工具来提高SV检测率.
这项研究在ERCC8中确定了新型和亚洲特异性SV,有助于了解CS遗传学.

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