{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:11Z","timestamp":1790516591134,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T00:00:00Z","timestamp":1589414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Center for Rare Diseases Research, Chinese Academy of Medical Sciences, Beijing, China"},{"name":"the National Key Research and Development Program of China Grant","award":["2016YFC0901500"],"award-info":[{"award-number":["2016YFC0901500"]}]},{"name":"the Fundamental Research Funds for the Central Universities","award":["3332018025"],"award-info":[{"award-number":["3332018025"]}]},{"name":"Beijing Dongcheng District Excellent Talent Support Training project","award":["2017JGM-10"],"award-info":[{"award-number":["2017JGM-10"]}]},{"name":"NCMI-ABD02","award":["201709"],"award-info":[{"award-number":["201709"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Acromicric dysplasia is a rare heritable short\u2010stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutations in the <jats:italic>FBN1<\/jats:italic> have been proposed as the predominant cause of both diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>By performing skin biopsy, X\u2010ray imaging, electrocardiography, as well as whole\u2010genome sequencing and Sanger sequencing, we diagnosed an 8\u2010year\u2010old Chinese boy as acromicric dysplasia with severe skin stiffness caused by a heterogeneous mutation in the <jats:italic>FBN1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with skin tightness, wrist and ankle stiffness, short stature and limbs, several deformed joints in the extremities, cone\u2010shaped epiphyses, and distinct facial features. He also had a patent foramen ovale and frequent respiratory infections. Skin biopsy showed thickened dermis and excessive collagen aggregation. Alcian blue staining indicated dermal mucopolysaccharide deposition. Mutation analysis revealed a heterozygous missense mutation, c.5243G&gt;A (p.Cys1748Tyr), in exon 42 of the <jats:italic>FBN1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is a report about acromicric dysplasia with stiff skin syndrome\u2010like severe cutaneous presentation caused by a single hotspot mutation, further revealing the gene pleiotropy of <jats:italic>FBN1<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1282","type":"journal-article","created":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T09:18:44Z","timestamp":1589447924000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Acromicric dysplasia with stiff skin syndrome\u2010like severe cutaneous presentation in an 8\u2010year\u2010old boy with a missense <i>FBN1<\/i> mutation: Case report and literature review"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9998-2862","authenticated-orcid":false,"given":"Tao","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuyan","family":"Yang","sequence":"additional","affiliation":[{"name":"Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijuan","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048634"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36044"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000446476"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20289"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.745"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2006.01619.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12614"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00438-019-01547-x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv181"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2017.37.1.92"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36139"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3000488"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61268"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)92073-3"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.73"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/joa.12123"}],"container-title":["Molecular Genetics &amp; 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