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Identification of Reln Variant P.(Ser2486gly) in an Iranian Family With Ankylosing Spondylitis; the First Association of Reln and As Publisher Pubmed



Garshasbi M1 ; Mahmoudi M2, 3 ; Razmara E1 ; Vojdanian M2, 3 ; Aslani S2 ; Farhadi E2, 3 ; Jensen LR4, 5 ; Arzaghi SM6 ; Poursani S2, 3 ; Bitaraf A7 ; Eidi M1 ; Gharehdaghi EE1 ; Kuss AW4 ; Jamshidi A2, 3
Authors

Source: European Journal of Human Genetics Published:2020


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. © 2020, The Author(s), under exclusive licence to European Society of Human Genetics.
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