ArticlePloS one2016
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Rare 19q13.42 duplication encompassingTranslational pediatrics · 2026Article
- Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.Frontiers in immunology · 2026Article
- Cold-Induced Urticarias with Familial Background: Clinical Spectrum, Pathogenesis, and Diagnostic Challenges.Diagnostics (Basel, Switzerland) · 2025Review
- Identification of a Novel NLRP12 Frameshift Mutation (Val730GlyfsHuman mutation · 2024Article
- Clinical heterogeneity of NLRP12-associated autoinflammatory diseases.Genes & diseases · 2023Article
- Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.Clinical rheumatology · 2022Article
- The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.World journal of pediatrics : WJP · 2020Review
- Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report.Journal of medical case reports · 2019Article
- NLRs as Helpline in the Brain: Mechanisms and Therapeutic Implications.Molecular neurobiology · 2018Review
- C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.Rheumatology international · 2018Review
- Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.Rheumatology international · 2018Article
- NLRP12 autoinflammatory disease: a Chinese case series and literature review.Clinical rheumatology · 2017Review
- Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication.Frontiers in immunology · 2017Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial cold autoinflammatory syndrome (FCAS) is an extremely rare autosomal dominant inherited disease. Although there are four genes that have been linked with FCAS, its molecular diagnosis has been challenging in a relatively large proportion of cases. In this study, we aimed to investigate the genetic defect of a recruited FCAS family using exome sequencing followed by in-depth bioinformatics analysis. As a result, a novel heterozygous stop-gain mutation (Trp408X) in NLRP12 was identified in autosomal dominant inherited FCAS with clinical features of recurrent fever and skin urticaria due to cold conditions. When combined with previous studies, all of the reported mutations were found to have occurred in a highly conserved region in the NACHT domain coding sequence in NLRP12 exon 3, suggesting that a screening strategy for FCAS should focus on this area of the gene. In conclusion, this study demonstrates the importance of exome sequencing for clinical diagnosis of genetic disorders and provides molecular insight into FCAS treatment and diagnosis.
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