{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:28Z","timestamp":1747146208913,"version":"3.40.5"},"reference-count":35,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Cutis laxa<\/jats:italic> (CL) is a rare connective tissue disorder characterized by wrinkled, abundant and sagging skin, sometimes associated with systemic impairment. Biallelic alterations in latent transforming growth factor beta\u2010binding protein 4 gene (<jats:italic>LTBP4<\/jats:italic>) cause autosomal recessive type 1C <jats:italic>cutis laxa<\/jats:italic> (ARCL1C, MIM #613177). The present report describes the case of a 17\u2010months\u2010old girl with <jats:italic>cutis laxa<\/jats:italic> together with a literature review of previous ARCL1C cases. Based on proband main clinical signs (cutis laxa and pulmonary emphysema), clinical exome sequencing (CES) was performed and showed a new nine base\u2010pairs homozygous in\u2010frame deletion in <jats:italic>LTBP4 gene<\/jats:italic>. RT\u2010PCR and cDNA Sanger sequencing were performed in order to clarify its impact on RNA. This report demonstrates that a genetic alteration in the EGF\u2010like 14 domain calcium\u2010binding motif of <jats:italic>LTBP4 gene<\/jats:italic> is likely responsible for cutis laxa in our patient.<\/jats:p>","DOI":"10.1002\/ajmg.a.62954","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T11:15:50Z","timestamp":1660648550000},"page":"3343-3349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["First report of a short in\u2010frame biallelic deletion removing part of the EGF\u2010like domain calcium\u2010binding motif in LTBP4 and causing autosomal recessive <i>cutis laxa<\/i> type 1C"],"prefix":"10.1002","volume":"188","author":[{"given":"Jean\u2010Marie","family":"Ravel","sequence":"first","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"},{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margot","family":"Comel","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Wandzel","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Bronner","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e9lie","family":"Tatopoulos","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Infantile CHRU de Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"},{"name":"Service de g\u00e9n\u00e9tique m\u00e9dicale CHRU de Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"La\u00ebtitia","family":"Lambert","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"},{"name":"Service de g\u00e9n\u00e9tique m\u00e9dicale CHRU de Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Claire","family":"Bursztejn","sequence":"additional","affiliation":[{"name":"D\u00e9partement de dermatologie CHRU de Nancy  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6799-0438","authenticated-orcid":false,"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique m\u00e9dicale CHRU Nancy  Nancy France"},{"name":"Universit\u00e9 de Lorraine, INSERM UMR_S1256, NGERE  Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-80614-9_13"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21462"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22165"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2021","author":"Callewaert B. 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