{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:55:05Z","timestamp":1792695305240,"version":"4.5.0"},"reference-count":85,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Apert syndrome (AS) is a rare autosomal dominant congenital disorder characterized by craniosynostosis, midfacial hypoplasia, and syndactyly. Most cases are caused by mutations in the fibroblast growth factor receptor 2 (\n                    <jats:italic>FGFR2<\/jats:italic>\n                    ) gene, primarily S252W and P253R mutations, more than 98% resulting from de novo mutations. The\n                    <jats:italic>FGFR2<\/jats:italic>\n                    gene encodes a receptor tyrosine kinase protein, which is essential for embryonic development and skeletal formation. The study reported a Chinese newborn diagnosed with AS, attributed to a novel\n                    <jats:italic>FGFR2<\/jats:italic>\n                    gene mutation, c.514_515delinsCT (p. Ala172Leu), identified through whole exome sequencing (WES). The proband was a male infant born at 38\n                    <jats:sup>+5<\/jats:sup>\n                    weeks of gestation to non\u2010consanguineous parents. At birth, he exhibited craniofacial abnormalities, including frontal bossing, proptosis, hypertelorism, and a hooked nose, along with syndactyly of the hands and feet. Additional findings included congenital heart defects, bronchial stenosis, and hyperhidrosis. Genetic testing revealed a novel\n                    <jats:italic>FGFR2<\/jats:italic>\n                    mutation, c.514_515delinsCT (p. Ala172Leu), which was absent in his parents, confirming a de novo mutation. Protein structure prediction using AlphaFold and PyMOL demonstrated significant structural differences between the wild\u2010type and mutant proteins, with an RMSD value of 11.147\u2009\u00c5. This mutation likely disrupts\n                    <jats:italic>FGFR2's<\/jats:italic>\n                    ligand\u2010binding ability, leading to aberrant activation and contributing to the clinical features observed. This case presents a novel\n                    <jats:italic>FGFR2<\/jats:italic>\n                    mutation, expanding the spectrum of genetic variants associated with AS. The findings underscore the importance of genetic testing and protein structure analysis in diagnosing atypical cases and understanding genotype\u2013phenotype correlations. Further studies with larger cohorts are needed to elucidate the molecular mechanisms underlying AS and develop personalized diagnostic and therapeutic approaches for this complex disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64158","type":"journal-article","created":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T05:47:14Z","timestamp":1750830434000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Novel\n                    <scp>\n                      <i>FGFR2<\/i>\n                    <\/scp>\n                    Gene Mutation (c.514_515delinsCT, p.\n                    <scp>Ala172Leu<\/scp>\n                    ) in a Chinese Neonate With Apert Syndrome: A Case Report"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7529-3026","authenticated-orcid":false,"given":"Dongxue","family":"Pan","sequence":"first","affiliation":[{"name":"Zhongshan City People's Hospital  Zhongshan City Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9797-9099","authenticated-orcid":false,"given":"Xiufang","family":"Yang","sequence":"additional","affiliation":[{"name":"Zhongshan City People's Hospital  Zhongshan City Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470\u20102045(20)30109\u20101"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000181186"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078\u20100432.CCR\u201023\u20103588"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20825"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256\u2010019\u20102173\u2010x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1597\/06\u2010149.1"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.24875\/BMHIM.18000053"},{"key":"e_1_2_12_9_1","first-page":"548","article-title":"Neonatal Apert Syndrome: A Case Report","volume":"37","author":"Cao F.","year":"2022","journal-title":"Chinese Journal of Neonatology"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404\u2010021\u201006263\u20109"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v9.i4.912"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350108"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1993.02160330079025"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.prs.0000111593.96440.30"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31824de344"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050979"},{"key":"e_1_2_12_17_1","first-page":"682","article-title":"FGFR2 Gene Mutation in a Patient With Apert Syndrome: A Case Report","volume":"27","author":"Dai L.","year":"2010","journal-title":"Chinese Journal of Medical Genetics"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010019\u201004050\u20101"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2007.00372.x"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e3182729f42"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u201012\u2010122"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20100705.1999.14060426.x"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1597\/04\u2010155.1"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197\u201042"},{"key":"e_1_2_12_25_1","first-page":"733","article-title":"S252W Mutation in Indian Patients of Apert Syndrome","volume":"43","author":"Girisha K. 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