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The disease has a reported male prevalence of approximately 1:30 000 or less, but the AR repeat expansion frequency is unknown. We established a pipeline, which combines the use of the ExpansionHunter tool and visual validation, to detect AR CAG expansion on whole-genome sequencing data, benchmarked it to fragment PCR sizing, and applied it to 74 277 unrelated individuals from four large cohorts. Our pipeline showed sensitivity of 100% [95% confidence interval (CI) 90.8\u2013100%], specificity of 99% (95% CI 94.2\u201399.7%), and a positive predictive value of 97.4% (95% CI 84.4\u201399.6%). We found the mutation frequency to be 1:3182 (95% CI 1:2309\u20131:4386, n = 117 734) X chromosomes\u201410 times more frequent than the reported disease prevalence. Modelling using the novel mutation frequency led to estimate disease prevalence of 1:6887 males, more than four times more frequent than the reported disease prevalence. This discrepancy is possibly due to underdiagnosis of this neuromuscular condition, reduced penetrance, and\/or pleomorphic clinical manifestations.<\/jats:p>","DOI":"10.1093\/brain\/awad050","type":"journal-article","created":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T17:11:44Z","timestamp":1676481104000},"page":"2723-2729","source":"Crossref","is-referenced-by-count":28,"title":["Unexpected frequency of the pathogenic\n                    <i>AR<\/i>\n                    CAG repeat expansion in the general population"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3343-1547","authenticated-orcid":false,"given":"Matteo","family":"Zanovello","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, UCL , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"William 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