Artikel: [Analysis of FBN1 genemutations in a pedigree with Marfan syndrome].
2022 Band 102, Heft 34, Seite(n) 2702–2706
Abstract: Mutations in fibrillin-1 (FBN1) were detected in an autosomal dominant Marfan syndrome (MFS) pedigree. The related phenotypes and the significance of mutation screening were discussed. Complete medical and cardiovascular examinations for all pedigree ... ...
Abstract | Mutations in fibrillin-1 (FBN1) were detected in an autosomal dominant Marfan syndrome (MFS) pedigree. The related phenotypes and the significance of mutation screening were discussed. Complete medical and cardiovascular examinations for all pedigree members were performed. Whole exons sequencing (WES) was used to sequence the DNA of the patients and their relatives. The potential pathogenic mutation sites were screened by bioinformatics method. Sanger sequencing was used to verify the mutation sites in the pedigree. The results showed that FBN1 missense mutation was c.6806 T>C in exon 56, resulting in isoleucine being replaced by threonine (p. Ile2269Thr). This mutation has not been reported in Chinese Han population. The occurrence of the mutations strongly correlated with the phenotypes of the patients. The results expand the mutation spectrum of FBN1, and it is helpful to further explore the molecular pathogenesis of MFS and MFS related diseases. |
---|---|
Mesh-Begriff(e) | Exons ; Fibrillin-1/genetics ; Humans ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Marfan Syndrome/pathology ; Mutation, Missense ; Pedigree |
Chemische Substanzen | FBN1 protein, human ; Fibrillin-1 |
Sprache | Chinesisch |
Erscheinungsdatum | 2022-09-12 |
Erscheinungsland | China |
Dokumenttyp | Journal Article |
ZDB-ID | 132513-9 |
ISSN | 0376-2491 |
ISSN | 0376-2491 |
DOI | 10.3760/cma.j.cn112137-20220531-01200 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Zusatzmaterialien
Kategorien
Verfügbar in ZB MED Köln/Königswinter
Zs.B 2011: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.