{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T21:48:04Z","timestamp":1751406484076},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T00:00:00Z","timestamp":1444089600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009360","name":"King\u2019s College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009360","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Incontinentia pigmenti is a rare, multisystem <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked dominant genetic disorder caused by mutations in <jats:styled-content style=\"fixed-case\"><jats:italic>IKBKG<\/jats:italic><\/jats:styled-content>, the encoding inhibitor of kappa light polypeptide gene enhancer in <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>\u2010cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4\u201310. At present, this mutation can be detected by a multi\u2010primer polymerase chain reaction (<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>) technique although current protocols may preferentially amplify the wild\u2010type allele and miss the deletion. Here, we report a female infant with incontinentia pigmenti that also affected her mother and sister, and two spontaneously aborted male siblings. We developed a modified <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> amplification method that provides more robust detection of the exon 4\u201310 deletion mutation, which was demonstrated in all affected females in this pedigree.<\/jats:p>","DOI":"10.1111\/ajd.12407","type":"journal-article","created":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T08:36:47Z","timestamp":1444120607000},"page":"150-153","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Improved molecular diagnosis of the common recurrent intragenic deletion mutation in <scp><i>IKBKG<\/i><\/scp> in a <scp>F<\/scp>ilipino family with incontinentia pigmenti"],"prefix":"10.1111","volume":"57","author":[{"given":"Bryan Edgar K","family":"Guevara","sequence":"first","affiliation":[{"name":"Department of Dermatology Southern Philippines Medical Center  Davao Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao\u2010Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology King's College London  London UK"},{"name":"Department of Dermatology National Cheng Kung University Hospital  Tainan Taiwan"},{"name":"Institute of Clinical Medicine College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[{"name":"Viapath St Thomas' Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Feast","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology King's College London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen Lee P","family":"Alabado","sequence":"additional","affiliation":[{"name":"Department of Dermatology Southern Philippines Medical Center  Davao Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maricarr Pamela M","family":"Lacuesta","sequence":"additional","affiliation":[{"name":"Department of Dermatology Southern Philippines Medical Center  Davao Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia Yu\u2010Yun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Cheng Kung University Hospital  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John's Institute of Dermatology King's College London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,6]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"355","article-title":"Incontinentia pigmenti (Bloch\u2013Sulzberger syndrome): a systemic disorder","volume":"79","author":"Ehrenreich M","year":"2007","journal-title":"Cutis"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1991.tb00296.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.53"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/35013114"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.19.2171"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10150"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.889"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1777"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.3233\/NPM-1475413","article-title":"Neonatal presentation of incontinentia pigmenti with a family history extending over four generations \u2013 a case report","volume":"7","author":"Ojha R","year":"2014","journal-title":"J. Neonatal Perinatal Med."},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-25"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fajd.12407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.12407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:48:26Z","timestamp":1695491306000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.12407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,6]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1111\/ajd.12407"],"URL":"https:\/\/doi.org\/10.1111\/ajd.12407","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,6]]},"assertion":[{"value":"2015-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-09-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-10-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}