{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:57:45Z","timestamp":1785772665702,"version":"3.56.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Several clinical entities are associated with\n                    <jats:italic>ACTB<\/jats:italic>\n                    pathogenic variants. Most notably, constitutional missense gain\u2010of\u2010function variants are linked to Baraitser\u2010Winter cerebrofrontofacial syndrome, and recurrent somatic gain\u2010of\u2010function Arg147 variants are reported in Becker's nevus or in smooth muscle hamartomas. We describe three individuals with mosaic hypopigmentation following Blaschko's lines, associated or not with neurodevelopmental features, with postzygotic\n                    <jats:italic>ACTB<\/jats:italic>\n                    variants identified with deep next\u2010generation sequencing on skin biopsy from an affected area. We identified the same missense p.(Arg335His) variant in individuals #1 and #3, already reported in a constitutional state in a fetus. Individual #2 carried an unreported in\u2010frame insertion\u2013deletion (p.(Ser348_Leu349insPheHisLeuProProSerIle)). Thus, we describe a previously unreported phenotype related to postzygotic\n                    <jats:italic>ACTB<\/jats:italic>\n                    variants with hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.\n                  <\/jats:p>","DOI":"10.1111\/cge.70188","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T12:00:04Z","timestamp":1779969604000},"page":"369-373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the\n                    <scp>ACTB<\/scp>\n                    \u2010Related Neurocutaneous Disease Spectrum"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-5904-9847","authenticated-orcid":false,"given":"Estella","family":"Castillon","sequence":"first","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, Inserm, CTM UMR1231, Equipe GAD, FHU TRANSLAD, Centre de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7303-8825","authenticated-orcid":false,"given":"Paul","family":"Rollier","sequence":"additional","affiliation":[{"name":"Univ Rennes, CHU Rennes (Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs), CNRS, IGDR\u2010UMR6290  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Bessis","sequence":"additional","affiliation":[{"name":"Service de Dermatologie, Centre de R\u00e9f\u00e9rence Des Maladies Rares de la Peau et Des Muqueuses D'origine G\u00e9n\u00e9tique, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[{"name":"Univ Rennes, CHU Rennes (Centre de r\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares), CNRS, ARENES\u2010UMR 6051  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2378-5982","authenticated-orcid":false,"given":"Caroline","family":"Racine","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, Inserm, CTM UMR1231, Equipe GAD, FHU TRANSLAD, Centre de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Praga","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Marie et Louis Pasteur, CHU Besan\u00e7on Franche\u2010Comt\u00e9, Oncobiologie G\u00e9n\u00e9tique Bioinformatique, FHU TRANSLAD  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Vabres","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Centre de R\u00e9f\u00e9rence Des Maladies Rares de la Peau et Des Muqueuses D'origine G\u00e9n\u00e9tique MAGEC  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertille","family":"Bonniaud","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Centre de R\u00e9f\u00e9rence Des Maladies Rares de la Peau et Des Muqueuses D'origine G\u00e9n\u00e9tique MAGEC  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2814-6303","authenticated-orcid":false,"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Marie et Louis Pasteur, CHU Besan\u00e7on Franche\u2010Comt\u00e9, Oncobiologie G\u00e9n\u00e9tique Bioinformatique, FHU TRANSLAD  Besan\u00e7on France"},{"name":"Universit\u00e9 Bourgogne Europe, Inserm, CTM UMR1231, Equipe GAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-444X","authenticated-orcid":false,"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, Inserm, CTM UMR1231, Equipe GAD, FHU TRANSLAD, Centre de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201006713\u20100"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.006"},{"key":"e_1_2_10_4_1","volume-title":"GeneReviews [Internet]","author":"Verloes 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