1. Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course
- Author
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Hella Luksch, Peter Krawitz, Patrick Hundsdoerfer, Kirsten Minden, Angela Rösen-Wolff, Sae-Lim von Stuckrad, Tilmann Kallinich, and Anne Thorwarth
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Arthritis ,Case Report ,600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::619 Gynäkologie, Pädiatrie, Geriatrie ,medicine.disease_cause ,Frameshift mutation ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,Systemic juvenile idiopathic arthritis ,Internal medicine ,medicine ,Humans ,Immunology and Allergy ,Juvenile ,Exome ,Genetic Predisposition to Disease ,Pediatrics, Perinatology, and Child Health ,Child ,Frameshift Mutation ,030203 arthritis & rheumatology ,Mutation ,Systemic juvenile idiopathic arthritis Exome sequencing ,business.industry ,Homozygote ,Intracellular Signaling Peptides and Proteins ,Proteins ,Inflammasome ,Exome sequencing, FAMIN, LACC1 ,medicine.disease ,Phenotype ,Arthritis, Juvenile ,Pedigree ,030104 developmental biology ,FAMIN, LACC1 ,Pediatrics, Perinatology and Child Health ,Immunology ,Female ,business ,medicine.drug - Abstract
Background The pathophysiological origin of juvenile idiopathic arthritis (JIA) is largely unknown. However, individuals with presumably pathogenic mutations in FAMIN have been reported, associating this gene with a rare subtype of this disorder. FAMIN, that is formerly also referred to as LACC1 or C13orf31, has recently been shown to play a crucial role in immune-metabolic functions and is involved in regulation of inflammasome activation and promotion of ROS production. Case presentation We describe two siblings with severe familial forms of juvenile arthritis in which whole-exome-sequencing revealed a novel homozygous frameshift mutation (NM_153218.2:c.827delC¸. p.(T276fs*2) in FAMIN. Conclusions The observation of a new deleterious mutation adds further evidence that pathogenic mutations in FAMIN are causal for a monogenic form of JIA. Furthermore the associated phenotype is not restricted to systemic JIA, but can also be found in other forms of familial juvenile arthritis.
- Published
- 2016
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