{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:24:30Z","timestamp":1790979870845,"version":"4.1.0"},"reference-count":54,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:p>There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.<\/jats:p>","DOI":"10.1136\/jmg.40.10.721","type":"journal-article","created":{"date-parts":[[2003,10,20]],"date-time":"2003-10-20T15:35:54Z","timestamp":1066664154000},"page":"721-728","source":"Crossref","is-referenced-by-count":147,"title":["In vivo reversion to normal of inherited mutations in humans"],"prefix":"10.1136","volume":"40","author":[{"given":"R","family":"Hirschhorn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2003,10,20]]},"reference":[{"key":"2025101712093384000_40.10.721.1","first-page":"355","volume":"43","year":"1988","journal-title":"Am J Hum Genet"},{"key":"2025101712093384000_40.10.721.2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050708"},{"key":"2025101712093384000_40.10.721.3","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050896"},{"key":"2025101712093384000_40.10.721.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<361::AID-AJMG11>3.0.CO;2-E"},{"key":"2025101712093384000_40.10.721.5","doi-asserted-by":"publisher","DOI":"10.1038\/nrg906"},{"key":"2025101712093384000_40.10.721.6","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1056\/NEJM196011242632102","volume":"263","year":"1960","journal-title":"New Engl J Med"},{"key":"2025101712093384000_40.10.721.7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/j.1469-1809.1970.tb01660.x","volume":"33","year":"1970","journal-title":"Ann Hum Genet"},{"key":"2025101712093384000_40.10.721.8","first-page":"444","volume":"56","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2025101712093384000_40.10.721.9","first-page":"610","volume":"62","year":"1999","journal-title":"Am J Hum Genet"},{"key":"2025101712093384000_40.10.721.10","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<342::AID-AJMG6>3.0.CO;2-8"},{"key":"2025101712093384000_40.10.721.11","unstructured":"OMIM #308300,*300248 Incontinentia pigmenti; IPNemo IKBKG 58.."},{"key":"2025101712093384000_40.10.721.12","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-15398"},{"key":"2025101712093384000_40.10.721.13","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050154"},{"key":"2025101712093384000_40.10.721.14","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(92)90025-2"},{"key":"2025101712093384000_40.10.721.15","doi-asserted-by":"publisher","DOI":"10.1007\/s100240010146"},{"key":"2025101712093384000_40.10.721.16","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1172\/JCI116393","volume":"91","year":"1993","journal-title":"Clin Invest"},{"key":"2025101712093384000_40.10.721.17","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1172\/JCI117509","volume":"94","year":"1994","journal-title":"J Clin Invest"},{"key":"2025101712093384000_40.10.721.18","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2695"},{"key":"2025101712093384000_40.10.721.19","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-2-9"},{"key":"2025101712093384000_40.10.721.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-266"},{"key":"2025101712093384000_40.10.721.21","unstructured":"Hirschhorn R. Immunodeficiency disease due to deficiency of adenosine deaminase. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. Oxford: Oxford University Press, 1999:121\u201339."},{"key":"2025101712093384000_40.10.721.22","first-page":"59","volume":"55","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025101712093384000_40.10.721.23","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-290"},{"key":"2025101712093384000_40.10.721.24","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.9.2896"},{"key":"2025101712093384000_40.10.721.25","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.3.1005"},{"key":"2025101712093384000_40.10.721.26","first-page":"286","volume":"130","year":"1983","journal-title":"J Immunol"},{"key":"2025101712093384000_40.10.721.27","doi-asserted-by":"publisher","DOI":"10.1006\/clin.1994.1211"},{"key":"2025101712093384000_40.10.721.28","doi-asserted-by":"publisher","DOI":"10.1006\/mthe.2000.0232"},{"key":"2025101712093384000_40.10.721.29","doi-asserted-by":"publisher","DOI":"10.1126\/science.1070104"},{"key":"2025101712093384000_40.10.721.30","doi-asserted-by":"publisher","DOI":"10.1038\/nm0502-423"},{"key":"2025101712093384000_40.10.721.31","unstructured":"Puck JM. X-linked severe combined immunodeficiency. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. Oxford: Oxford University Press, 1999:99\u2013110."},{"key":"2025101712093384000_40.10.721.32","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199611213352104"},{"key":"2025101712093384000_40.10.721.33","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.1.274"},{"key":"2025101712093384000_40.10.721.34","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703613"},{"key":"2025101712093384000_40.10.721.35","doi-asserted-by":"publisher","DOI":"10.1126\/science.288.5466.669"},{"key":"2025101712093384000_40.10.721.36","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012616"},{"key":"2025101712093384000_40.10.721.37","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/nri859","volume":"2","year":"2002","journal-title":"Nat Rev Immunol"},{"key":"2025101712093384000_40.10.721.38","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200301163480314"},{"key":"2025101712093384000_40.10.721.39","unstructured":"Ochs HD, Rosen FS. The Wiskott-Aldrich Syndrome. In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. Oxford: Oxford University Press, 1999:292\u2013305."},{"key":"2025101712093384000_40.10.721.40","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.166.8.5245"},{"key":"2025101712093384000_40.10.721.41","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.151260498"},{"key":"2025101712093384000_40.10.721.42","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1182\/blood.V92.2.699","volume":"92","year":"1998","journal-title":"Blood"},{"key":"2025101712093384000_40.10.721.43","unstructured":"German J, Ellis NA. Chapter 30: Bloom Syndrome. In: Scriver C, Vogelstein B, eds. Molecular metabolic basis of inherited disease. New York: McGraw Hill, New York, 2000:733\u201352."},{"key":"2025101712093384000_40.10.721.44","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000447"},{"key":"2025101712093384000_40.10.721.45","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81894-2"},{"key":"2025101712093384000_40.10.721.46","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1172\/JCI4338","volume":"103","year":"1999","journal-title":"J Clin Invest"},{"key":"2025101712093384000_40.10.721.47","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01715.x"},{"key":"2025101712093384000_40.10.721.48","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.1"},{"key":"2025101712093384000_40.10.721.49","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.10.3417-3426.2003"},{"key":"2025101712093384000_40.10.721.50","doi-asserted-by":"publisher","DOI":"10.1038\/11956"},{"key":"2025101712093384000_40.10.721.51","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1159\/000484749","volume":"5","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"2025101712093384000_40.10.721.52","doi-asserted-by":"publisher","DOI":"10.1159\/000069805"},{"key":"2025101712093384000_40.10.721.53","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.051609898"},{"key":"2025101712093384000_40.10.721.54","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1182\/blood.V95.2.700","volume":"95","year":"2000","journal-title":"Blood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.40.10.721","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:09:44Z","timestamp":1760728184000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.40.10.721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10]]},"references-count":54,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2003,10,20]]},"published-print":{"date-parts":[[2003,10]]}},"alternative-id":["10.1136\/jmg.40.10.721"],"URL":"https:\/\/doi.org\/10.1136\/jmg.40.10.721","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10]]}}}