{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:07Z","timestamp":1786978267740,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by mutations in\n                      <jats:italic>HRAS<\/jats:italic>\n                      . Previous studies reported that approximately 80% of patients with CS share the same pathogenic variant in\n                      <jats:italic>HRAS<\/jats:italic>\n                      gene in c.34G&gt; A (p.G12S). Here, we report a CS patient with c.34G&gt; A (p.G12D) variant in\n                      <jats:italic>HRAS<\/jats:italic>\n                      gene and she presented with special manifestation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p>\n                      We describe a 31\u2010year\u2010old female patient who presented with distinctive facial appearance, intellectual disability, dental abnormalities, hyperkeratosis of palmer and planter, loose skin at birth, papillomata on the face and nipples. The whole\u2010exome sequencing (WES) technology provided by Haotian Biotechnology (China) confirmed p.G12D variant in\n                      <jats:italic>HRAS<\/jats:italic>\n                      gene. To elucidate the typical features of CS with p.G12D variant, we further reviewed these previously reported cases and found that patients with G12D variant died within three months after birth due to multiple organ failure. They had the typical facial characteristics, failure to thrive, skin and cardiac abnormalities, and gene testing confirmed the diagnosis of CS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>To the best of our knowledge, this is the first article to report a patient with a p.G12D variant that had special but mild manifestation. Moreover, this report and literature review casts new light on the clinical features of p.G12D variant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1690","type":"journal-article","created":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T07:07:00Z","timestamp":1619852820000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Costello syndrome with special cutaneous manifestations and\n                    <i>HRAS<\/i>\n                    G12D mutation: A case report and literature review"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6600-8249","authenticated-orcid":false,"given":"Wen","family":"Qian","sequence":"first","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meijie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Mycology Institute of Dermatology Chinese Academy of Medical Science and Peking Union Medical College Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hequn","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, No. 1 Hospital and Key Laboratory of Dermatology Ministry of Education Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihe","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gajin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueyue","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38178"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010108"},{"key":"e_1_2_10_5_1","first-page":"675","article-title":"Linear nevus sebaceous with convulsions and mental retardation","volume":"104","author":"Feuerstein R. 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