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#510823 - 05/08/15 01:55 PM Novel Pathogenic Variants in Familial Axial SpAs
MollyC1i Offline
Very_Addicted_to_AS_Kickin

Registered: 01/21/04
Posts: 9749
Loc: Brittany, France (since Nov 08...
http://ard.bmj.com/content/early/2015/05/08/annrheumdis-2014-206484?papetoc

nd translational research
Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis

Darren D O'Rielly, Mohammed Uddin, Dianne Codner, Michael Hayley, Jiayi Zhou, Lourdes Pena-Castillo, Ahmed A Mostafa, S M Mahmudul Hasan, William Liu, Nigil Haroon, Robert Inman, Proton Rahman

Abstract
Objective Axial spondyloarthritis (AxSpA) represents a group of inflammatory axial diseases that share common clinical and histopathological manifestations. Ankylosing spondylitis (AS) is the best characterised subset of AxSpA, and its genetic basis has been extensively investigated. Given that genome-wide association studies account for only 25% of AS heritability, the objective of this study was to discover rare, highly penetrant genetic variants in AxSpA pathogenesis using a well-characterised, multigenerational family.

Methods HLA-B*27 genotyping and exome sequencing was performed on DNA collected from available family members. Variant frequency was assessed by mining publically available datasets and using fragment analysis of unrelated AxSpA cases and unaffected controls. Gene expression was performed by qPCR, and protein expression was assessed by western blot analysis and immunofluorescence microscopy using patient-derived B-cell lines. Circular dichroism spectroscopy was performed to assess the impact of discovered variants on secondary structure.

Results This is the first report identifying two rare private familial variants in a multigenerational AxSpA family, an in-frame SEC16A deletion and an out-of-frame MAMDC4 deletion. Evidence suggests the causative mechanism for SEC16A appears to be a conformational change induced by deletion of three highly conserved amino acids from the intrinsically disordered Sec16A N-terminus and RNA-mediated decay for MAMDC4.

Conclusions The results suggest that it is the presence of rare syntenic SEC16A and MAMDC4 deletions that increases susceptibility to AxSpA in family members who carry the HLA-B*27 allele.

cat
_________________________
MollyC1i - Riding OutAS

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#511023 - 05/20/15 03:24 AM Re: Novel Pathogenic Variants in Familial Axial SpAs [Re: MollyC1i]
Megan Offline


Registered: 04/11/02
Posts: 3605
Loc: Canada
Very interesting. My mother comes from a family where 80% have the gene, and ALL of those with the gene developed AS. It's pretty prevalent in my family.

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