Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 497-500, 2020.
Article
de Zh
| WPRIM
| ID: wpr-826548
Bibliothèque responsable:
WPRO
ABSTRACT
OBJECTIVE@#To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA).@*METHODS@#Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling.@*RESULTS@#A c.3528C>A (p.Asn1176Lys) variant was identified in the FBN2 gene of the proband, other patients from this pedigree, as well as the fetus. The same variant was not found among healthy members from this pedigree and the 100 healthy controls.@*CONCLUSION@#The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case. The new variant has enriched pathological spectrum of the FBN2 gene.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
/
Diagnostic prénatal
/
Contracture
/
Arachnodactylie
/
Exome
/
Fibrilline-2
/
Génétique
/
Mutation
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites du sujet:
Female
/
Humans
/
Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article