{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:47:43Z","timestamp":1787014063680,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T00:00:00Z","timestamp":1586131200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 AR071491"],"award-info":[{"award-number":["R01 AR071491"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54 HG006504"],"award-info":[{"award-number":["U54 HG006504"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2020,8]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Congenital smooth muscle hamartomas (CSMHs) are benign lesions that share clinical and histopathological features with Becker nevus, a mosaic disorder associated with post\u2010zygotic\n ACTB<\/jats:italic>\n mutations. Given the clinical and histopathological overlap between CSMH and Becker nevus, we hypothesized that post\u2010zygotic mutations in\n ACTB<\/jats:italic>\n may underlie CSMH.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Direct sequencing of\n ACTB<\/jats:italic>\n gene in affected and unaffected tissue isolated from one case of hemihypertrichosis and hemihypertrophy corresponding to giant segmental CSMH and hemihypertrophy. This was followed by direct sequencing with and without enrichment assay for hotspot\n ACTB<\/jats:italic>\n mutations in affected tissue from 12 samples of isolated CSMH from unrelated individuals.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In total we identified somatic missense\n ACTB<\/jats:italic>\n mutations in 9 out of 13 CSMHs (69%). Mutations were either novel or previously reported in Becker nevi and Becker nevus syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n CSMHs result from post\u2010zygotic\n ACTB<\/jats:italic>\n mutations. This study proves that CSMHs and Becker nevi are nosologically related, and expand the phenotypic spectrum of\n ACTB<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cup.13683","type":"journal-article","created":{"date-parts":[[2020,3,14]],"date-time":"2020-03-14T11:09:05Z","timestamp":1584184145000},"page":"681-685","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["\n Post\u2010zygotic\n ACTB<\/i>\n <\/scp>\n mutations underlie congenital smooth muscle hamartomas"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5149-5777","authenticated-orcid":false,"given":"Lihi","family":"Atzmony","sequence":"first","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine New Haven Connecticut USA"},{"name":"Department of Genetics Yale University School of Medicine New Haven Connecticut USA"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelson","family":"Ugwu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodore D.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Antaya","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A.","family":"Choate","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine New Haven Connecticut USA"},{"name":"Department of Genetics Yale University School of Medicine New Haven Connecticut USA"},{"name":"Department of Pathology Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1990.02150310050024"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(84)70227-1"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/000155599750010544"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1989.tb00920.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00642.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1993.tb00495.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<357::AID-AJMG20>3.0.CO;2-R"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1979.tb00305.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1981.01650100080039"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.scs.0000181049.99071.23"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1993.tb00041.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2986"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.2007.00966.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.03.017"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cppeds.2015.03.002"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000447413"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2005.tb00784.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1971.04000130100018"},{"issue":"9","key":"e_1_2_6_20_1","first-page":"787","article-title":"Congenital corporal hemihypertrophy with hypertrichosis","volume":"112","author":"Wallach D","year":"1985","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2010.06.003"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijt.ijt_55_18"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e11-06-0582"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/cm.20475"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12864"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.95"},{"key":"e_1_2_6_27_1","article-title":"Pathogenic variant in ACTB, p.Arg183Trp, causes juvenile\u2010onset dystonia, hearing loss, and developmental delay without midline malformation","volume":"2017","author":"Conboy E","year":"2017","journal-title":"Case Rep Genet"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1086\/504271"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.006"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22350"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80837-5"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3598"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23867.x"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13683","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cup.13683","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13683","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T04:31:52Z","timestamp":1693888312000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.13683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,6]]},"references-count":32,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1111\/cup.13683"],"URL":"https:\/\/doi.org\/10.1111\/cup.13683","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"value":"0303-6987","type":"print"},{"value":"1600-0560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,6]]},"assertion":[{"value":"2020-01-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}