| Literature DB >> 32001840 |
Masoud Garshasbi1, Mahdi Mahmoudi2,3, Ehsan Razmara1, Mahdi Vojdanian4,5, Saeed Aslani4, Elham Farhadi4,5, Lars Riff Jensen6,7, Seyed Masoud Arzaghi8, Shiva Poursani4,5, Amirreza Bitaraf9, Milad Eidi1, Elika Esmaeilzadeh Gharehdaghi1, Andreas Walter Kuss6, Ahmadreza Jamshidi10,11.
Abstract
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 potential insights into the pathophysiological bases of AS and it could broaden horizons toward new therapeutic strategies.Entities:
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Year: 2020 PMID： 32001840 PMCID： PMC7253431 DOI： 10.1038/s41431-020-0573-4
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246