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Clinical impact of whole-genome sequencing in patients with early-onset dementia

基因检测 痴呆 医学 全基因组测序 队列 遗传变异 三核苷酸重复扩增 疾病 遗传学 生物 内科学 基因组 等位基因 基因
作者
Aamira Huq,Bryony A. Thompson,Mark F. Bennett,Adam Bournazos,Shobhana Bommireddipalli,Alexandra Gorelik,Joshua R. Schultz,Adrienne Sexton,Rebecca Purvis,Kirsty West,Megan Cotter,Giulia Valente,Andrew Hughes,Moeen Riaz,Maie Walsh,Sarah Farrand,Samantha Loi,Trevor J. Kilpatrick,Amy Brodtmann,David Darby,Dhamidhu Eratne,Mark Walterfang,Martin B. Delatycki,Elsdon Storey,Michael Fahey,Sandra T. Cooper,Paul Lacaze,Colin L. Masters,Dennis Velakoulis,Melanie Bahlo,Paul A. James,Ingrid Winship
出处
期刊:Journal of Neurology, Neurosurgery, and Psychiatry [BMJ]
卷期号:93 (11): 1181-1189 被引量:12
标识
DOI:10.1136/jnnp-2021-328146
摘要

Background In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential to serve as a single diagnostic platform, due to its superior ability to detect common, rare and structural genetic variation. Methods WGS analysis was performed in 50 patients with EOD. Point mutations, small insertions/deletions, as well as structural variants (SVs) and short tandem repeats (STRs), were analysed. An Alzheimer’s disease (AD)-related polygenic risk score (PRS) was calculated in patients with AD. Results Clinical genetic diagnosis was achieved in 7 of 50 (14%) of the patients, with a further 8 patients (16%) found to have established risk factors which may have contributed to their EOD. Two pathogenic variants were identified through SV analysis. No expanded STRs were found in this study cohort, but a blinded analysis with a positive control identified a C9orf72 expansion accurately. Approximately 37% (7 of 19) of patients with AD had a PRS equivalent to >90th percentile risk. Discussion WGS acts as a single genetic test to identify different types of clinically relevant genetic variations in patients with EOD. WGS, if used as a first-line clinical diagnostic test, has the potential to increase the diagnostic yield and reduce time to diagnosis for EOD.
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