Authors
Masoud Garshasbi, Mahdi Mahmoudi, Ehsan Razmara, Mahdi Vojdanian, Saeed Aslani, Elham Farhadi, Lars Riff Jensen, Seyed Masoud Arzaghi, Shiva Poursani, Amirreza Bitaraf, Milad Eidi, Elika Esmaeilzadeh Gharehdaghi, Andreas Walter Kuss, Ahmadreza Jamshidi
Publication date
2020/6
Journal
European Journal of Human Genetics
Volume
28
Issue
6
Pages
754-762
Publisher
Springer International Publishing
Description
Ankylosing spondylitis (AS) is a common complex inflammatory disease; however, up to now distinct genes with monogenic pattern have not been reported for this disease. In the present study, we report a large Iranian family with several affected members with AS. DNAs of the three affected and two healthy cases were chosen for performing whole-exome sequencing (WES). After several filtering steps, candidate variants in the following genes were detected: RELN, DNMT1, TAF4β, MUC16, DLG2, and FAM208. However, segregation analysis confirmed the association of only one variant, c.7456A>G; p.(Ser2486Gly) in the RELN gene with AS in this family. In addition, in silico predictions supported the probable pathogenicity of this variant. In this study, for the first time, we report a novel variant in the RELN gene, c.7456A>G; p.(Ser2486Gly), which completely co-segregates with AS. This association suggests …
Scholar articles
M Garshasbi, M Mahmoudi, E Razmara, M Vojdanian… - European Journal of Human Genetics, 2020