{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T07:17:15Z","timestamp":1769757435864,"version":"3.49.0"},"reference-count":10,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,14]],"date-time":"2023-05-14T00:00:00Z","timestamp":1684022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP22ek0109486"],"award-info":[{"award-number":["JP22ek0109486"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP22ek0109549"],"award-info":[{"award-number":["JP22ek0109549"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP22ek0109493"],"award-info":[{"award-number":["JP22ek0109493"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP19H03621"],"award-info":[{"award-number":["JP19H03621"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP22H03047"],"award-info":[{"award-number":["JP22H03047"]}]},{"name":"Japan Society for the Promotion of Science (JSPS)","award":["JP22ek0109486"],"award-info":[{"award-number":["JP22ek0109486"]}]},{"name":"Japan Society for the Promotion of Science (JSPS)","award":["JP22ek0109549"],"award-info":[{"award-number":["JP22ek0109549"]}]},{"name":"Japan Society for the Promotion of Science (JSPS)","award":["JP22ek0109493"],"award-info":[{"award-number":["JP22ek0109493"]}]},{"name":"Japan Society for the Promotion of Science (JSPS)","award":["JP19H03621"],"award-info":[{"award-number":["JP19H03621"]}]},{"name":"Japan Society for the Promotion of Science (JSPS)","award":["JP22H03047"],"award-info":[{"award-number":["JP22H03047"]}]},{"name":"Takeda Science Foundation","award":["JP22ek0109486"],"award-info":[{"award-number":["JP22ek0109486"]}]},{"name":"Takeda Science Foundation","award":["JP22ek0109549"],"award-info":[{"award-number":["JP22ek0109549"]}]},{"name":"Takeda Science Foundation","award":["JP22ek0109493"],"award-info":[{"award-number":["JP22ek0109493"]}]},{"name":"Takeda Science Foundation","award":["JP19H03621"],"award-info":[{"award-number":["JP19H03621"]}]},{"name":"Takeda Science Foundation","award":["JP22H03047"],"award-info":[{"award-number":["JP22H03047"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Musculocontractural Ehlers\u2013Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE). As gastrointestinal complications of mcEDS-CHST14, diverticula in the colon, small intestine, or stomach have been reported, which may lead to gastrointestinal perforation, here, we describe sisters with mcEDS-CHST14, who developed colonic perforation with no evidence of diverticula and were successfully treated through surgery (a resection of perforation site and colostomy) and careful postoperative care. A pathological investigation did not show specific abnormalities of the colon at the perforation site. Patients with mcEDS-CHST14 aged from the teens to the 30s should undergo not only abdominal X-ray photography but also abdominal computed tomography when they experience abdominal pain.<\/jats:p>","DOI":"10.3390\/genes14051079","type":"journal-article","created":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T08:28:16Z","timestamp":1684139296000},"page":"1079","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers\u2013Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)"],"prefix":"10.3390","volume":"14","author":[{"given":"Tomoko","family":"Kobayashi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tohoku University Hospital, Sendai 980-8574, Japan"},{"name":"Tohoku Medical Megabank Organization, Tohoku University, Sendai 980-8573, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8400-5551","authenticated-orcid":false,"given":"Fumiyoshi","family":"Fujishima","sequence":"additional","affiliation":[{"name":"Department of Pathology, Tohoku University Hospital, Sendai 980-8574, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuaki","family":"Tokodai","sequence":"additional","affiliation":[{"name":"Department of Surgery, Tohoku University Hospital, Sendai 980-8574, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1449-2053","authenticated-orcid":false,"given":"Chiaki","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Surgery, Tohoku University Hospital, Sendai 980-8574, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kamei","sequence":"additional","affiliation":[{"name":"Department of Surgery, Tohoku University Hospital, Sendai 980-8574, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan"},{"name":"Department of Human Genetics, Research Institute National Center for Global Health and Medicine, Tokyo 162-8655, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-6500","authenticated-orcid":false,"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Center for Medical Genetics, Shinshu University Hospital, Matsumoto 390-8621, Japan"},{"name":"Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Research Center for Supports to Advanced Science, Shinshu University, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 International Classification of the Ehlers-Danlos Syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/ajmg.c.31550","article-title":"The Ehlers-Danlos Syndromes, Rare Types","volume":"175","author":"Brady","year":"2017","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/s41572-020-0194-9","article-title":"The Ehlers-Danlos Syndromes","volume":"6","author":"Malfait","year":"2020","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1136\/jmedgenet-2020-107623","article-title":"Clinical and Molecular Features of 66 Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)","volume":"59","author":"Minatogawa","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"846529","DOI":"10.3389\/fgene.2022.846529","article-title":"Case Report: Multiple Gastrointestinal Perforations in a Rare Musculocontractural Ehlers-Danlos Syndrome with Multiple Organ Dysfunction","volume":"13","author":"Qian","year":"2022","journal-title":"Front. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1002\/humu.24437","article-title":"Clinical and Pathophysiological Delineation of Musculo-contractural Ehlers-Danlos Syndrome Caused by Dermatan Sulfate Epimerase Deficiency (mcEDS-DSE): A Detailed and Comprehensive Glycobiological and Pathological Investigation in a Novel Patient","volume":"43","author":"Minatogawa","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/ped.12878","article-title":"CHST14\/D4ST1 Deficiency: New Form of Ehlers-Danlos Syndrome","volume":"58","author":"Kosho","year":"2016","journal-title":"Pediatr. Int."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ajmg.a.37383","article-title":"The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome Due to CHST14 Mutations","volume":"170A","author":"Janecke","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.bbagen.2018.12.006","article-title":"Structural Alteration of Glycosaminoglycan Side Chains and Spatial Disorganization of Collagen Networks in the Skin of Patients with mcEDS-CHST14","volume":"1863","author":"Hirose","year":"2019","journal-title":"Biochim. Biophys. Acta Gen. Subj."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Kosho, T., Mizumoto, S., Watanabe, T., Yoshizawa, T., Miyake, N., and Yamada, S. (2020). Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. Genes, 11.","DOI":"10.3390\/genes11010043"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/5\/1079\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:34:37Z","timestamp":1760124877000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/5\/1079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,14]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,5]]}},"alternative-id":["genes14051079"],"URL":"https:\/\/doi.org\/10.3390\/genes14051079","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,14]]}}}