{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T09:46:40Z","timestamp":1785836800853,"version":"3.56.0"},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82370912"],"award-info":[{"award-number":["82370912"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["2042023kf0231"],"award-info":[{"award-number":["2042023kf0231"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Osteopathia striata with cranial sclerosis (OSCS) is a rare X\u2010linked dominant genetic disorder mediated by variants in the\n                    <jats:italic>AMER1<\/jats:italic>\n                    gene, characterized primarily by generalized skeletal sclerosis and striated changes. However, research on its craniofacial phenotypes has long been fragmented, lacking systematic pedigree construction and basis for precise management. This study integrates a 16\u2010year follow\u2010up patient carrying a novel\n                    <jats:italic>AMER1<\/jats:italic>\n                    frameshift variant (c.966delT; p.Phe322Leufs*3) with 66 literature\u2010confirmed patients, and systematically analyzes craniofacial phenotypic characteristics and genetic associations using Spearman correlation analysis, two\u2010step clustering, and gene function prediction. The results show that orofacial clefts have the highest incidence (72%), with synergistic associations between retained deciduous teeth and impacted permanent teeth; two\u2010step clustering identified four heterogeneous \u201cgenetic abnormality\u2010phenotype\u201d subtypes, with DNA\/protein functional status as the core factor; it confirms that c.966delT is a pathogenic de novo variant, mediating Wnt pathway abnormalities as the core mechanism of phenotypes, and proposes a multidisciplinary management strategy. This study is the first to establish a quantitative pedigree and subtype classification for OSCS craniofacial phenotypes, deepening the understanding of molecular mechanisms and providing key basis for precise diagnosis, stratified intervention, and prognosis improvement.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70164","type":"journal-article","created":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T04:10:18Z","timestamp":1775880618000},"page":"1973-1988","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a Novel\n                    <scp>\n                      <i>AMER1<\/i>\n                    <\/scp>\n                    Variant and Craniofacial Phenotypic Spectrum in Osteopathia Striata with Cranial Sclerosis"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5838-004X","authenticated-orcid":false,"given":"Qing","family":"Chen","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofaciall Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Department of Geriatric Dentistry, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0978-3892","authenticated-orcid":false,"given":"Xin","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofaciall Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Hubei Provincial Clinical Research Center for Dentofacial Deformities in Children, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Department of Orthodontics, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nianke","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofaciall Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Department of Geriatric Dentistry, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7239-3398","authenticated-orcid":false,"given":"Wenjun","family":"Yuan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofaciall Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Hubei Provincial Clinical Research Center for Dentofacial Deformities in Children, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Department of Orthodontics, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0747-7381","authenticated-orcid":false,"given":"Yaling","family":"Song","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral &amp; Maxillofaciall Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"},{"name":"Department of Geriatric Dentistry, School &amp; Hospital of Stomatology Wuhan University  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,10]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63709"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100040\u20101715120"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010020\u201000718\u20104"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.23074"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejwf.2023.04.005"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35619"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.09.001"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2016.04.012"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36369"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.080663"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3182800f04"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.84"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38261"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62452"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35716"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34178"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2022.2144902"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgad757"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.5125\/jkaoms.2021.47.2.141"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.270"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000027346"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009\u20102343"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100040\u20101710058"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbm4.10660"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/scs.0000000000011986"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.37.4.a681402hp258m8u2"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000116"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.090707"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2010.01553.x"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000479"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010022\u201001403\u20106"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201001035\u20100"},{"key":"e_1_2_13_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13082"},{"key":"e_1_2_13_36_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25020734"},{"key":"e_1_2_13_37_1","doi-asserted-by":"publisher","DOI":"10.1186\/1824\u20107288\u201038\u201027"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70164","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70164","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70164","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T09:11:24Z","timestamp":1785834684000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,10]]},"references-count":36,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/ajmg.a.70164"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70164","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,10]]},"assertion":[{"value":"2025-10-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}