{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T12:54:23Z","timestamp":1775912063152,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,12]],"date-time":"2017-05-12T00:00:00Z","timestamp":1494547200000},"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":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X\u2010linked dominant condition caused by mutations in the <jats:italic>AMER1<\/jats:italic> gene (also known as <jats:italic>WTX<\/jats:italic> or <jats:italic>FAM123B<\/jats:italic>). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmga38261-bib-0009\"\/>); Clinical Genetics 80: 383\u2010388; Vasiljevic et al. (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmga38261-bib-0012\"\/>); Prenatal Diagnosis 35: 302\u2010304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Ch\u00e9nier, Noor, Dupuis, Stavropoulos, &amp; Mendoza\u2010Londono, (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmga38261-bib-0001\"\/>); American Journal of Medical Genetics Part A 158A: 2946\u20102952; Holman et al. (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmga38261-bib-0003\"\/>); American Journal of Medical Genetics Part A 155A: 2397\u20102408; Joseph, Shoji, &amp; Econs, (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmga38261-bib-0005\"\/>); The Journal of Clinical Endocrinology and Metabolism 95: 1506\u20101507]. We report a case of a male child who has proven somatic mosaicism for OSCS associated with a novel pathogenic frameshift mutation, c.607_611delAGGCC (p.Arg203\u2009fs) in <jats:italic>AMER1<\/jats:italic>. We describe the multisystemic clinical features which include macrocephaly with ventriculomegaly and requirement for ventriculoperitoneal shunt, cleft palate, and respiratory difficulties after birth requiring tracheostomy insertion, persistent patent ductus arteriosus, failure to thrive and gastrostomy insertion, growth retardation, ophthalmoplegia, kidney malformation, cryptorchidism, and developmental delay. The use of new technologies with next generation sequencing (NGS) may improve the detection rate of mosaicism in rare conditions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38261","type":"journal-article","created":{"date-parts":[[2017,5,12]],"date-time":"2017-05-12T06:01:30Z","timestamp":1494568890000},"page":"1931-1935","source":"Crossref","is-referenced-by-count":7,"title":["Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic <i>AMER1<\/i> frameshift mutation"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9779-8009","authenticated-orcid":false,"given":"Jennifer","family":"Hague","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Delon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Brugger","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Howard","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leanne","family":"Sparnon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Simonic","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Abbs","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soo\u2010Mi","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35619"},{"issue":"16","key":"e_1_2_6_3_1","first-page":"30100","article-title":"First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome","volume":"1297","author":"Fradin M.","year":"2016","journal-title":"Joint, Bone, Spine"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34178"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.270"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2343"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.1.152"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science\/1141515"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.090707"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01553.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1137509"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-15-0159"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4513"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38261","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38261","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:40:58Z","timestamp":1696617658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,12]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1002\/ajmg.a.38261"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38261","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,12]]}}}