Original Article
Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly
Wang Jieqiong, Xia Yanjie, Wang Yanan, Yang Fan, Kong Xiangdong
Published 2020-05-10
Cite as Chin J Med Genet, 2020, 37(5): 497-500. DOI: 10.3760/cma.j.issn.1003-9406.2020.05.001
Abstract
ObjectiveTo detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA).
MethodsNext 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.
ResultsA c. 3528C>A (p.Asn1176Lys) variant was identified in theFBN2 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.
ConclusionThe c. 3528C>A (p.Asn1176Lys) variant of theFBN2 gene probably underlies the pathogenesis of CCA in our case. The new variant has enriched pathological spectrum of the FBN2 gene.
Key words:
Congenital contractural arachnodactyly; FBN2 gene; Next generation sequencing; Prenatal diagnosis
Contributor Information
Wang Jieqiong
Department of Genetics, Luoyang Maternal and Child Health Care Center, Luoyang, Henan 471000, China
Xia Yanjie
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wang Yanan
Department of Genetics, Luoyang Maternal and Child Health Care Center, Luoyang, Henan 471000, China
Yang Fan
Department of Genetics, Luoyang Maternal and Child Health Care Center, Luoyang, Henan 471000, China
Kong Xiangdong
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
