{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T12:54:22Z","timestamp":1775912062214,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T00:00:00Z","timestamp":1347840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteopathia striata with cranial sclerosis (OSCS) is an X\u2010linked disease caused by mutations involving <jats:italic>WTX<\/jats:italic> (<jats:italic>FAM123B<\/jats:italic>), a tumor suppressor protein with dual functions. OSCS typically affects females whereas males generally have fetal or neonatal lethality. Surviving affected males have characteristic facial dysmorphisms, skeletal features such as macrocephaly and short stature, neurodevelopmental disabilities and a high prevalence of neuromuscular anomalies. On imaging, hemizygous males display marked cranial and peripheral skeletal sclerosis without the metaphyseal striations that are seen in women with OSCS. Observations of striation in males may be indicative of a somatic mosaic mutation in <jats:italic>WTX<\/jats:italic>. To date only two cases of surviving males haves been confirmed with mosaic point mutations in <jats:italic>WTX<\/jats:italic>. We report on the first case of a male with a mosaic deletion of the entire <jats:italic>WTX<\/jats:italic> gene. We show that a mosaic deletion in a hemizygous male patient can cause a mild phenotype of OSCS, including facial and skull base bone striations, nasal stenosis, conductive hearing loss, global developmental delay, and mild facial dysmorphology without short stature or macrocephaly. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35619","type":"journal-article","created":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T20:33:48Z","timestamp":1347914028000},"page":"2946-2952","source":"Crossref","is-referenced-by-count":14,"title":["Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2"],"prefix":"10.1002","volume":"158A","author":[{"given":"S\u00e9bastien","family":"Ch\u00e9nier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Noor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Dupuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitri J","family":"Stavropoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,17]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"157","article-title":"Osteopathia striata with cranial sclerosis: Literature reappraisal argues for X\u2010linked inheritance","volume":"11","author":"Behninger 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