{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T21:14:47Z","timestamp":1720732487208},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4]]},"abstract":"\n FBLN5<\/jats:italic>-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5<\/jats:italic> gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5<\/jats:italic> genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5<\/jats:italic> gene, whereas the parents were heterozygous. The mutation was found to be \u2018possibly pathogenic\u2019 in bioinformatic analysis. We identified a novel FBLN5<\/jats:italic> mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000258","type":"journal-article","created":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T08:45:04Z","timestamp":1548060304000},"page":"63-65","source":"Crossref","is-referenced-by-count":4,"title":["Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family"],"prefix":"10.1097","volume":"28","author":[{"given":"Ibrahim","family":"Tekedereli","sequence":"first","affiliation":[{"name":"Medical Biology and Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emine","family":"Demiral","sequence":"additional","affiliation":[{"name":"Medical Biology and Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ismail K.","family":"Gokce","sequence":"additional","affiliation":[{"name":"Pediatrics, Medical Faculty, Inonu University, Malatya, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Esener","sequence":"additional","affiliation":[{"name":"Medical Biology and Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emine","family":"Camtosun","sequence":"additional","affiliation":[{"name":"Pediatrics, Medical Faculty, Inonu University, Malatya, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysehan","family":"Akinci","sequence":"additional","affiliation":[{"name":"Pediatrics, Medical Faculty, Inonu University, Malatya, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"842.e1","DOI":"10.1016\/j.jaad.2011.01.004","article-title":"Cutis laxa: a review","volume":"66","author":"Berk","year":"2012","journal-title":"J Am Acad Dermatol"},{"key":"R2-20230913","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1097\/MCD.0000000000000179","article-title":"A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review","volume":"26","author":"Duz","year":"2017","journal-title":"Clin Dysmorphol"},{"key":"R3-20230913","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1002\/ajmg.a.36630","article-title":"Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation","volume":"164A","author":"Kantaputra","year":"2014","journal-title":"Am J Med Genet Part A"},{"key":"R4-20230913","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1093\/hmg\/11.18.2113","article-title":"Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa","volume":"11","author":"Loeys","year":"2002","journal-title":"Hum Mol Genet"},{"key":"R5-20230913","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/415171a","article-title":"Fibulin-5\/DANCE is essential for elastogenesis in vivo","volume":"415","author":"Nakamura","year":"2002","journal-title":"Nature"},{"key":"R6-20230913","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.jmb.2010.06.039","article-title":"Biophysical characterisation of fibulin-5 proteins associated with disease","volume":"401","author":"Schneider","year":"2010","journal-title":"J Mol Biol"},{"key":"R8-20230913","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/415168a","article-title":"Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo","volume":"415","author":"Yanagisawa","year":"2002","journal-title":"Nature"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00019605-201904000-00002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T21:03:25Z","timestamp":1694639005000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019605-201904000-00002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000258","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]}}}