Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly.
10.3760/cma.j.issn.1003-9406.2020.05.001
- VernacularTitle:一个先天性挛缩蜘蛛指畸形综合征家系的
FBN2基因变异分析及产前诊断
- Author:
Jieqiong WANG
1
;
Yanjie XIA
;
Yanan WANG
;
Fan YANG
;
Xiangdong KONG
Author Information
1. Department of Genetics, Luoyang Maternal and Child Health Care Center, Luoyang, Henan 471000, China. kongxd@263.net.
- Publication Type:Case Reports
- MeSH:
Arachnodactyly;
complications;
genetics;
Contracture;
congenital;
etiology;
genetics;
Exome;
Female;
Fibrillin-2;
genetics;
Humans;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2020;37(5):497-500
- CountryChina
- Language:Chinese
-
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.
