Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1107-1110, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-776735
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a pedigree affected with Marfan syndrome (MFS).@*METHODS@#Clinical data of the patients was collected. With genomic DNA extracted from peripheral blood samples, potential mutation was detected by targeted exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Targeted exome sequencing and Sanger sequencing revealed a missense c.649T to C(p.Trp217Arg) variant in the exon 7 of FBN1 gene, which was unreported previously. Bioinformatics analysis suggested that the variant can cause amino acid replacement and affect the structure and function of fibrillin-1.@*CONCLUSION@#A novel missense variant of the FBN1 gene was identified, which probably underlies the autosomal dominant MFS in this pedigree.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Analyse de mutations d'ADN
/
Exons
/
Mutation faux-sens
/
Fibrillines
/
Fibrilline-1
/
Génétique
/
Syndrome de Marfan
/
Mutation
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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