Full
Outline
To investigate the role of mitochondrial antiviral signaling protein (MAVS) in viral infection-triggered generalized pustular psoriasis (GPP) in children.
This retrospective case-control study enrolled 80 GPP patients aged 0~18 years from Children’s Hospital of Chongqing Medical University (from October 2013 to April 2019). Whole-exome sequencing identified rare MAVS variants associated with GPP. Pathogenicity of variants was predicted using Mutation Taster, Disease Association, SIFT, and CADD bioinformatics tools. Sanger sequencing validated variants, followed by construction of wild-type (WT) and mutant MAVS expression plasmids transfected into HEK 293 cells. Protein expression was assessed by Western blot. Dual-luciferase reporter gene assays measured IFNB1 and NF-κB transcriptional activity. Genotype distribution of the MAVS c.171dupT/p.H57fs variant was analyzed using Fisher’s exact test.
This study enrolled 80 pediatric GPP patients (aged 0~18 years). Whole-exome sequencing identified five rare MAVS variants, with bioinformatics analyses predicting deleterious effects on protein stability and function. Western blot demonstrated that the c.171dupT mutation in GPP patients significantly reduced full-length MAVS expression (P<0.001); dual-luciferase assays further revealed this variant impaired MAVS-mediated IFNB1 transcriptional activation by 85% (P<0.001), abrogated NF-κB signaling pathway activation (P<0.001), but exhibited no dominant-negative effect on wild-type MAVS function（P>0.05）.
The MAVS c.171dupT frameshift variant may contribute to infection-triggered GPP in children, suggesting its potential as a genetic biomarker for GPP susceptibility.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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