{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T12:35:17Z","timestamp":1771590917405,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T00:00:00Z","timestamp":1675296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>\n<jats:styled-content>Abstract<\/jats:styled-content>\n<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To perform genetic screening for <jats:italic>ARMC5<\/jats:italic> gene germline pathogenic variants in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>In a group of 10 PBMAH patients, we performed complete sequencing of the coding region of the <jats:italic>ARMC5<\/jats:italic> gene and MLPA analysis for large deletion detection. In subjects with the <jats:italic>ARMC5<\/jats:italic> variant, we searched <jats:italic>ARMC5<\/jats:italic> gene somatic variants on tumor samples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 10 PBMAH patients, we identified four <jats:italic>ARMC5<\/jats:italic> germline variants (40%). One variant, c:174dupC p.Glu59Argfs*44, was already known; one variant p.Gly323Asp, was already reported and classified as likely disease\u2010causing VUS (class 3\u20134); two variants p.Leu596Arg and p.Arg811Pro, were never reported before. For p.Gly323Asp and p.Arg811Pro, we identified second deleterious variants at the somatic level, enforcing the possible pathogenic effect of germline variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results underscore the importance of performing genetic testing also in sporadic PBMAH patients and broaden the spectrum of molecular variants involved in PBMAH syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2126","type":"journal-article","created":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T10:41:12Z","timestamp":1675334472000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["New pathogenic variants in <i>ARMC5<\/i> gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia 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