精确治疗来自基因组医学计划的医学可行的ATP1A3变体,用于服务不足的人群
Cara P Ford1,2, Rebecca O Littlejohn3,4, Ryan German4,5
1School of Medicine, Meharry Medical College, Nashville, Tennessee, USA.
Molecular genetics & genomic medicine
|August 24, 2023
概括
基因组医学在一个代表性不足的孩子身上诊断出一种罕见的遗传障碍,拒绝了外基因组测序. 整体外基因组测序确定了一种致病性ATP1A3变体,使得有针对性的治疗和改善结果.
科学领域:
- 基因组医学是基因组医学.
- 罕见疾病的诊断 罕见疾病的诊断
- 临床遗传学 临床遗传学
背景情况:
- 基因组医学推进了罕见疾病诊断,但在代表性不足的人群中存在差异.
- 一名患有低血压,发育迟缓和的7岁男孩,来自代表性不足的少数民族,面临着对外体序列测序的保险障碍.
- 以前对线粒体肌肉病变的怀疑是不确定的.
研究的目的:
- 在一个服务不足的儿科病人身上调查一种罕见疾病的遗传基础.
- 在诊断复杂病例时展示整个外体序列的实用性.
- 强调公平获得基因组医学准确治疗的重要性.
主要方法:
- 在知情同意后,对实验对象的口腔细胞进行了全外体测序 (WES).
- 数据分析使用了贝勒遗传学公司的Illumina Dragen和Emedgene软件.
- 变体解释遵循ACMG指导方针,将发现与患者的表型相关联.
主要成果:
- 在染色体19q13上的ATP1A3基因 (c.2401G>A,p.D801N) 中,WES发现了一种异构体的新型致病变体.
- 这种变种预计会造成损害,并且以前在ClinVar.中被报告为致病性.
- 鉴定的变种与2型儿童期交替性半有关.
结论:
- 患者的症状与儿童期交替性半2是一致的,这是一种罕见的自体主导性疾病.
- 鉴定ATP1A3变异导致了医疗管理的变化,包括启动抗体.
- 该患者没有经历过进一步的半发作,这强调了基因组医学在服务不足的人群中用于精确治疗的价值.
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