{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:44:57Z","timestamp":1787496297732,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,11]],"date-time":"2018-04-11T00:00:00Z","timestamp":1523404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC 2018"],"award-info":[{"award-number":["RC 2018"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"\n Circumferential skin creases Kunze type (CSC\u2010KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tire Baby Syndrome (MTBS). CSC\u2010KT patients also exhibit facial dysmorphism, growth retardation, intellectual disability (ID) and multiple congenital malformations. Recently, 2 heterozygous mutations in\n TUBB<\/jats:italic>\n gene and 4 mutations (both homozygous and heterozygous) in\n MAPRE2<\/jats:italic>\n gene were identified in 3 and 4 CSC\u2010KT patients, respectively. In the 3\n TUBB<\/jats:italic>\n gene\u2010related CSC\u2010KT patients, all mutations fall in the N\u2010terminal gene domain and were de novo. Mutations in the C\u2010terminal of\n TUBB<\/jats:italic>\n gene have been associated to microcephaly and structural brain malformation, in the absence of CSC\u2010KT features. We report a 9\u2010year\u2010old boy with a diagnosis of CSC\u2010KT based on MTBS, facial dysmorphism, microcephaly, severe ID, cortical atrophy and corpus callosum hypoplasia. Sanger sequencing identified a novel heterozygous c.218T>C (p.Met73Thr) mutation in the N\u2010terminal of\n TUBB<\/jats:italic>\n gene, that was inherited from the mother affected by isolated MTBS. This is the first report of inherited\n TUBB<\/jats:italic>\n gene\u2010related CSC\u2010KT resulting from a novel heterozygous mutation in the N\u2010terminal domain. Present data support the role of\n TUBB<\/jats:italic>\n mutations in CSC\u2010KT and definitely includes CSC\u2010KT syndrome within the tubulinopathies.\n <\/jats:p>","DOI":"10.1111\/cge.13232","type":"journal-article","created":{"date-parts":[[2018,2,10]],"date-time":"2018-02-10T05:26:38Z","timestamp":1518240398000},"page":"1223-1228","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N\u2010terminal\n TUBB<\/i>\n gene"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9505-5906","authenticated-orcid":false,"given":"M.L.","family":"Dentici","sequence":"first","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Terracciano","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Capolino","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Novelli","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0205-9634","authenticated-orcid":false,"given":"M.C.","family":"Digilio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9, IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808322673"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.01.003"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1001\/archderm.1969.01610270062014","article-title":"Generalized folded skin with an underlying lipomatous nevus. \"The Michelin Tire baby\"","volume":"100","author":"Ross CM","year":"1969","journal-title":"Arch 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