Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
13
04
2019
accepted:
03
12
2019
revised:
11
11
2019
pubmed:
1
2
2020
medline:
28
5
2021
entrez:
1
2
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32001840
doi: 10.1038/s41431-020-0573-4
pii: 10.1038/s41431-020-0573-4
pmc: PMC7253431
doi:
Substances chimiques
Cell Adhesion Molecules, Neuronal
0
Extracellular Matrix Proteins
0
Nerve Tissue Proteins
0
Reelin Protein
0
RELN protein, human
EC 3.4.21.-
Serine Endopeptidases
EC 3.4.21.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
754-762Références
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