{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:22:15Z","timestamp":1791469335166,"version":"4.3.4"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T00:00:00Z","timestamp":1718755200000},"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":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common inherited neuromuscular diseases. Following the identification of a pathogenic causative variant in the <jats:italic>DMD<\/jats:italic> gene of a proband, potential carriers can be informed of their risk of having offspring with the disease. Germline mosaicism is a variant that is confined to the gonads that can be transmitted to offspring and is usually reported when a non\u2010carrier of a <jats:italic>DMD<\/jats:italic> pathogenic variant has two or more offspring carrying the variant in question. On average, one third of cases are the result of a de novo variant, and as DMD and BMD are prone to germline mosaicism, its inclusion in genetic counseling is mandatory. In this retrospective cohort study, we presented clinical data from an unpublished DMD\/BMD cohort of 332 families with incidence of germline mosaicism in families with de novo transmission of 8.1%. This is also the first systematic literature review searching PubMed to provide an accurate assessment of the current literature on germline mosaicism in DMD and BMD, including 17 case reports and 20 original studies. The incidence of documented germline mosaicism in de novo event families ranged from 6.0 to 40%, with a mean of 8.3%. The estimated recurrence risk for mothers of a patient with a proven de novo causal variant ranged from 4.3 to 11%, with a mean of 5.8% for a male fetus. By providing an up\u2010to\u2010date and comprehensive overview of the literature, this review aims to improve our understanding of germline mosaicism in DMD and to promote the development of effective strategies and reliable data for occurrence risk assessment in genetic counseling of de novo event families.<\/jats:p>","DOI":"10.1002\/jgc4.1932","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T07:54:03Z","timestamp":1718783643000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A retrospective cohort study and review of the literature about germline mosaicism in Duchenne\/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0524-4827","authenticated-orcid":false,"given":"Camille","family":"Verebi","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique, APHP.Centre Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Cochin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Gravrand","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique, APHP.Centre Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Cochin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique, APHP.Centre Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Cochin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique, APHP.Centre Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Cochin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d'Organe, F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et de M\u00e9decine G\u00e9nomique, APHP.Centre Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Cochin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/329554a0"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.553"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210802"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098\u2010009\u20100214\u2010y"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2013.0384"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.790"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst024273s"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202820"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399\u20100004.2000.580312.x"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197714"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200919"},{"key":"e_1_2_13_13_1","first-page":"620","article-title":"Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)\/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on HindIII and BglII exon\u2010containing fragment maps, meiotic and mitotic origin of the mutations","volume":"43","author":"Darras B. 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