{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T20:02:17Z","timestamp":1781726537945,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,1,5]],"date-time":"2020-01-05T00:00:00Z","timestamp":1578182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shanghai Municipal Commission of Health and Family Planning","award":["2015ZB0203"],"award-info":[{"award-number":["2015ZB0203"]}]},{"name":"Joint Research Initiative Shanghai Jiaotong University School of Medicine"},{"name":"The Shanghai Municipal Science and Technology Committee","award":["19411965000"],"award-info":[{"award-number":["19411965000"]}]},{"name":"The Shanghai Municipal Science and Technology Committee","award":["18XD1403200"],"award-info":[{"award-number":["18XD1403200"]}]},{"name":"Shanghai Children's Hospital","award":["2016YMS001"],"award-info":[{"award-number":["2016YMS001"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital symmetric circumferential skin creases (CSCSC) was initially described five decades ago. Exome sequencing has recently revealed the genetic etiology of CSCSC. Pathogenic variants in <jats:italic>TUBB<\/jats:italic> (OMIM# 191130) and <jats:italic>MAPRE2<\/jats:italic> (OMIM# 605789) have been linked to CSCSC1 (OMIM# 156610) and CSCSC2 (OMIM# 616734), respectively, in an autosomal dominant manner. Four pathogenic variants in <jats:italic>MAPRE2<\/jats:italic> have been previously reported to be associated with CSCSC2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) has been performed and an in\u2010house pipeline was used to conduct a phenotype\u2010driven data analysis. All candidate variants were confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here we report a 2\u2010year\u2010old boy characterized by absent expressive speech, normal to mild over growth, facial dysmorphic features, remarkable circumferential skin creases on both forearms and ankles. WES disclosed a de novo missense MAPRE2 variant, c.518G&gt;A (p.Arg173Gln), as the molecular cause of this complex phenotype. We described detailed clinical characterization of this patient and compared the available clinical data of individuals with MAPRE2 variants to demonstrate the phenotypic spectrum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study reports the first patient of Asian origin with CSCSC2 due to a pathogenic mutation of MAPRE2 and expands the clinical and genetic spectrum of CSCSC2.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1096","type":"journal-article","created":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T07:42:27Z","timestamp":1578296547000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A de novo <i>MAPRE2<\/i> variant in a patient with congenital symmetric circumferential skin creases type 2"],"prefix":"10.1002","volume":"8","author":[{"given":"Jincai","family":"Feng","sequence":"first","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Lan","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8767-8732","authenticated-orcid":false,"given":"Xiaozhen","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojun","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuhen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangjun","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2245-2273","authenticated-orcid":false,"given":"Shengnan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Shanghai Children's Hospital Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01403.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199301000-00005"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13232"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<23:AID-AJMG5>3.0.CO;2-X"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.129759"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.10.014"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10665"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2014.06.002"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.100.3.320"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835cd5df"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.01.003"}],"container-title":["Molecular Genetics &amp; 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