Whole exome sequencing in a juvenile idiopathic arthritis large family with SERPINA1 gene mutations

Abstract

Abstract Objectives Although the underlying mechanisms and mediators of arthritis in juvenile idiopathic arthritis are not well understood, accumulated evidence supports the mixt role of genetic and environmental factors. Few reports of multiplex families with JIA were published until now. The aim of this study was to describe the subjects affected by juvenile idiopathic arthritis and psoriatic features (JIAPs) in a large family. Methods Here, we characterized an extended multiplex family of 5 patients with juvenile idiopathic arthritis and psoriatic features (PsA) at the clinical and genetic level, using whole exome sequencing. Results We did not confirm in our family the linkage with the genetic factors already described that might be associated with increase susceptibility to JIA. We found a carrier status of siblings who inherited a pathogenic allele of the SERPINA1 gene from their mother who herself has two heterozygous pathogenic variants in the SERPINA1 gene. Conclusions This study didn’t identify genetic contributive factors but highlights potentially environmental associations concerning the siblings of a family with juvenile idiopathic arthritis and psoriatic features (JIAPs). It is difficult to establish that SERPINA1 gene mutation has an etiological role as the levels of AAT are only slightly decreased and all the children harbor heterozygous variants.

Keywords

• Juvenile idiopathic arthritis
• Psoriasis
• Alpha-1-antitrypsin deficiency (AATD)
• SERPINA1