{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:48:32Z","timestamp":1773053312630,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T00:00:00Z","timestamp":1738195200000},"content-version":"vor","delay-in-days":29,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008678","name":"Universit\u00e4t Leipzig","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008678","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making conventional short\u2010read sequencing challenging. While long\u2010range PCR is typically used to overcome this, skewed X\u2010inactivation detection can also aid in assigning variants to\n                    <jats:italic>IKBKG<\/jats:italic>\n                    . We employed a comprehensive approach, incorporating whole\u2010exome sequencing (WES), long\u2010range PCR, RT\u2010PCR, X\u2010inactivation analysis, and nanopore sequencing, to identify and accurately phase a small heterozygous deletion, NM_001099857.5: c.363_367del, p.(Leu122Glyfs\u2009\n                    <jats:sup>\u2217<\/jats:sup>\n                    14), in the\n                    <jats:italic>IKBKG<\/jats:italic>\n                    gene in an IP\u2010affected family. The deletion was initially detected via WES, with skewed X\u2010inactivation observed in both the proband and her mother. Long\u2010range PCR specific to\n                    <jats:italic>IKBKG<\/jats:italic>\n                    confirmed the variant\u2019s location in the\n                    <jats:italic>IKBKG<\/jats:italic>\n                    gene, not in the pseudogene. On the RNA level, the variant was undetectable, suggesting nonsense\u2010mediated decay of the transcript. Nanopore sequencing precisely mapped the variant to\n                    <jats:italic>IKBKG<\/jats:italic>\n                    and analyzed the methylation status of both alleles, confirming the skewed X\u2010inactivation, with the variant\u2010carrying allele predominantly inactivated. This demonstrates the nanopore sequencing\u2019s value in genetic diagnosis, enabling precise variant localization and analysis of X chromosome activation status in females with skewed X\u2010inactivation, aiding in accurate diagnosis and understanding of IP.\n                  <\/jats:p>","DOI":"10.1155\/humu\/6657400","type":"journal-article","created":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T08:17:56Z","timestamp":1738225076000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3384-5101","authenticated-orcid":false,"given":"Simone","family":"Ahting","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5656-2027","authenticated-orcid":false,"given":"Denny","family":"Popp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Oppermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Strehlow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Fasshauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernt","family":"Popp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maike","family":"Karnstedt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8354-2523","authenticated-orcid":false,"given":"Isabell","family":"Schumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,30]]},"reference":[{"key":"e_1_2_11_1_2","unstructured":"Orphanet Report Series. 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