Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family

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dc.authoridKayhan, Zeynep/0000-0003-0579-1115
dc.authoridAkinci, Aysehan/0000-0001-7267-9444
dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridDemiral, Emine/0000-0002-7216-662X
dc.authorwosidEsener, Zeynep/ISB-9416-2023
dc.authorwosidGökçe, İsmail Kürşad/ABI-8128-2020
dc.authorwosidKayhan, Zeynep/AAJ-4623-2021
dc.authorwosidAkinci, Aysehan/AAC-6847-2021
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.contributor.authorTekedereli, Ibrahim
dc.contributor.authorDemiral, Emine
dc.contributor.authorGokce, Ismail K.
dc.contributor.authorEsener, Zeynep
dc.contributor.authorCamtosun, Emine
dc.contributor.authorAkinci, Aysehan
dc.date.accessioned2024-08-04T20:45:50Z
dc.date.available2024-08-04T20:45:50Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractFBLN5-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 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 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 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 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.en_US
dc.identifier.doi10.1097/MCD.0000000000000258
dc.identifier.endpage65en_US
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue2en_US
dc.identifier.pmid30640789en_US
dc.identifier.scopus2-s2.0-85062713992en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage63en_US
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000258
dc.identifier.urihttps://hdl.handle.net/11616/98716
dc.identifier.volume28en_US
dc.identifier.wosWOS:000462177300002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofClinical Dysmorphologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectautosomal recessive cutis laxaen_US
dc.subjectFBLN5en_US
dc.subjectmutationen_US
dc.titleAutosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a familyen_US
dc.typeArticleen_US

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