ArticleEuropean journal of human genetics : EJHG2020
Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- The risks of RELN polymorphisms and its expression in the development of otosclerosis.PloS one · 2022Pooled it
- Zygosity-Dependent Phenotypic Spectrum ofHuman mutation · 2026Article
- Exploring the genetic landscape of otosclerosis: current understanding and future perspectives.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2025Review
- Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).Metabolic brain disease · 2024Article
- Article
- High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.Neurogenetics · 2023Article
- Reelin through the years: From brain development to inflammation.Cell reports · 2023Review
- Genetic parameters and genome-wide association study of digital cushion thickness in Holstein cows.Journal of dairy science · 2022Article
- Prenatal stress perturbs fetal iron homeostasis in a sex specific manner.Scientific reports · 2022Article
- Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.BMC neurology · 2021Article
- What Have We Learned From Family-Based Studies About Spondyloarthritis?Frontiers in genetics · 2021Review
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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