{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:56:10Z","timestamp":1788285370908,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T00:00:00Z","timestamp":1430784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The National Institute for Health Research and Biomedical Research Centre at Moorfields Eye Hospital"},{"name":"The UCL Institute of Ophthalmology, UK","award":["BRC2_003"],"award-info":[{"award-number":["BRC2_003"]}]},{"name":"The Foundation Fighting Blindness, USA","award":["C-CL:0710-0505-MEH10-02"],"award-info":[{"award-number":["C-CL:0710-0505-MEH10-02"]}]},{"DOI":"10.13039\/501100000615","name":"Fight For Sight, UK","doi-asserted-by":"crossref","award":["1318"],"award-info":[{"award-number":["1318"]}],"id":[{"id":"10.13039\/501100000615","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Moorfields Eye Hospital Special Trustees, UK","award":["ST1109B"],"award-info":[{"award-number":["ST1109B"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Incontinentia pigmenti (IP) is an X\u2010linked, dominant genodermatosis usually fatal in utero in males. In rare circumstances, survival is possible due to abnormal karyotype or somatic mosaicism. In this report, the mechanism and significance of loss of detectable mutation in peripheral blood leukocytes of a somatic mosaic male is discussed and an alternative approach to achieving molecular diagnosis presented. A male patient is reported, who initially presented at 2 days of age with a rash and seizure. Clinical assessment and histology of a skin biopsy were consistent with a diagnosis of IP. He was subsequently found to have bilateral retinal detachments. Screening for the common deletion in <jats:italic>IKBKG<\/jats:italic> was negative. A novel nonsense variant, c.937C&gt;T (p.Gln313*) in <jats:italic>IKBKG<\/jats:italic> was identified at an approximate level of 15% in a blood sample taken at 10 days of age, but was undetectable in a sample taken at 3 years most likely due to selective apoptosis of mutant cells. Samples taken from the patient when he was 5\u20136 years of age identified the mutation at a low level in hair root and urine but not in blood or buccal cells. The detection of the mutation in cells derived from all germ layers indicates a de novo event at an early stage of embryogenesis. This is the first report of a nonsense mutation in a male IP patient. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37004","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T22:49:53Z","timestamp":1430866193000},"page":"1601-1604","source":"Crossref","is-referenced-by-count":30,"title":["Somatic mosaicism of a novel <i>IKBKG<\/i> mutation in a male patient with incontinentia pigmenti"],"prefix":"10.1002","volume":"167","author":[{"given":"Sarah","family":"Hull","sequence":"first","affiliation":[{"name":"Inherited Eye Diseases UCL Institute of Ophthalmology London United Kingdom"},{"name":"Moorfields Eye Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin","family":"Arno","sequence":"additional","affiliation":[{"name":"Inherited Eye Diseases UCL Institute of Ophthalmology London United Kingdom"},{"name":"Moorfields Eye Hospital London United 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