{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T08:21:06Z","timestamp":1771402866833,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T00:00:00Z","timestamp":1711497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T00:00:00Z","timestamp":1711497600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Incontinentia pigmenti (IP, Bloch\u2010Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%) and sporadic (65%) cases are caused by pathogenic variants in the\n                    <jats:italic>IKBKG<\/jats:italic>\n                    gene. Here we report an unusual family, where, in two half\u2010sisters affected by typical IP, molecular genetic analysis identified a likely pathogenic non\u2010sense variant in the\n                    <jats:italic>IKBKG<\/jats:italic>\n                    gene of one of the sisters, the other being not a carrier. The strong clinical conviction motivated further molecular genetic investigations, which led to the characterization of a second variant in this unique family. X chromosome inactivation studies demonstrated the paternal origin of these two de novo variants. For genes with frequent de novo mutations, the coexistence of different pathogenic mutations in the same family is a possibility, and constitutes a challenge for genetic counseling.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63591","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T14:29:20Z","timestamp":1711549760000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the\n                    <i>IKBKG<\/i>\n                    gene"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5259-4144","authenticated-orcid":false,"given":"Julie","family":"Steffann","sequence":"first","affiliation":[{"name":"UMR1163, Institut Imagine Unit\u00e9 Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judite","family":"De Oliveira Santos","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Laure","family":"Zelbin","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6801-7106","authenticated-orcid":false,"given":"Smail","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[{"name":"UMR1163, Institut Imagine Unit\u00e9 Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Service de Dermatologie H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Charbit\u2010Henrion","sequence":"additional","affiliation":[{"name":"UMR1163, Institut Imagine Unit\u00e9 Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Petit","sequence":"additional","affiliation":[{"name":"Clinique de G\u00e9n\u00e9tique Guy Fontaine CHU Lille  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.19.2171"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-2950"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr556"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2017.07.003"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-022-03444-6"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1777"},{"key":"e_1_2_9_8_1","volume-title":"GeneReviews\u00ae","author":"Scheuerle A. 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