{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T21:22:52Z","timestamp":1768684972501,"version":"3.49.0"},"reference-count":17,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T00:00:00Z","timestamp":1606694400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition characterised by metaphyseal striations, macrocephaly, cleft palate, and developmental delay in affected females. Males have a more severe phenotype with multi-organ malformations, and rarely survive. To date, only frameshift and nonsense variants in exon 2, the single coding exon of AMER1, or whole gene deletions have been reported to cause OSCS. In this study, we describe two families with phenotypic features typical of OSCS. Exome sequencing and multiplex ligation-dependent probe amplification (MLPA) did not identify pathogenic variants in AMER1. Therefore, genome sequencing was employed which identified two deletions containing the non-coding exon 1 of AMER1 in the families. These families highlight the importance of considering variants or deletions of upstream non-coding exons in conditions such as OSCS, noting that often such exons are not captured on probe or enrichment-based platforms because of their high G\/C content.<\/jats:p>","DOI":"10.3390\/genes11121439","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T20:10:22Z","timestamp":1606767022000},"page":"1439","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis"],"prefix":"10.3390","volume":"11","author":[{"given":"Jingyi","family":"Mi","sequence":"first","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Padmini","family":"Parthasarathy","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7330-7797","authenticated-orcid":false,"given":"Benjamin J.","family":"Halliday","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3841-0841","authenticated-orcid":false,"given":"John","family":"Dean","sequence":"additional","affiliation":[{"name":"North of Scotland Regional Genetics Service, NHS Grampian, Ashgrove House, Foresterhill, Aberdeen AB25 2ZA, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata J. M.","family":"Nowaczyk","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, Health Sciences Centre, McMaster University, Hamilton, ON L8S 4K1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Markie","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2990-0232","authenticated-orcid":false,"given":"Emma M.","family":"Wade","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1097\/MCD.0000000000000192","article-title":"First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9\u2009Mbp interstitial deletion at Xq11.1q11.2","volume":"26","author":"Vuillaume","year":"2017","journal-title":"Clin. 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