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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 in Chinese | WPRIM | ID: wpr-826548
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.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Prenatal Diagnosis / Contracture / Arachnodactyly / Exome / Fibrillin-2 / Genetics / Mutation Type of study: Diagnostic study / Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Prenatal Diagnosis / Contracture / Arachnodactyly / Exome / Fibrillin-2 / Genetics / Mutation Type of study: Diagnostic study / Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article