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每个CFTR变异都很重要 - - 基于目标捕获的下一代测序用于德国CF注册表中的分子诊断

Simone Ahting¹, Lutz Nährlich², Inka Held³

¹Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

|October 22, 2023

概括

重新评估遗传数据并使用完整的CFTR-locus下一代测序 (NGS) 改善了囊性纤维化 (pwCF) 患者的遗传诊断. 这种方法确定了新的CFTR变异,并增强了基因型确认,以改善治疗准入.

科学领域:

医学遗传学医学遗传学
基因组医学是基因组医学.
囊性纤维化研究囊性纤维化研究

背景情况:

在初步分析后,有很大比例的囊性纤维化患者 (pwCF) 缺乏确定的遗传变异.
由于自由文本输入,注册表中的现有的遗传数据可能不准确.
有限的遗传确认阻碍了对pwCF的基因型导向治疗的获取.

研究的目的:

重新评估德国囊性纤维化注册表中pwCF现有的自由文本遗传数据.
实施一个定制的全CFTR-locus下一代测序 (NGS) 方法,以改善基因诊断.
增加具有确定的遗传变异的pwCF数量,以获得更好的治疗选择.

主要方法:

通过使用ClinVar,HGMD和CFTR数据库,从655个pwCF中组装和评估了731个自由文本变体.
纠正和上传的变体到注册表和ClinVar.
对整个CFTR-locus进行针对性的基于捕获的NGS,用于诊断不确定或初始查后的病例.

主要成果:

确定了43种新的CFTR变异,这些变异在囊性纤维化方面以前没有报道过.
扩大了注册表的变体数据库497条条目,更新了500多个pwCF的基因型.
在47名个体的整个CFTR-locus NGS中实现了61.7%的成功率,从而使其纳入常规诊断.

结论:

整个CFTR-locus基因型鉴定显著提高了pwCF和相关疾病 (pwCFTR-RD) 的遗传诊断率.
这种综合方法应考虑用于CFTR诊断,特别是在负面或不确定的标准查小组后.

关键词:

囊性纤维化症是什么诊断诊断诊断诊断遗传学遗传学是一种遗传学.基因型定制是指基因型定制.下一代测序-下一代测序

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