title: Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
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.
  
  
  METHODS
  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.
authors.affiliation: Charité University Medicine Berlin, Pediatric Pneumology and Immunology, Augustenburger Platz 1, 13353, Berlin, Germany. tilmann.kallinich@charite.de.|Center for Chronically Sick Children of the Charité, Augustenburger Platz 1, 13353, Berlin, Germany. tilmann.kallinich@charite.de.
authors.forename: Tilmann
authors.identifier: http://orcid.org/0000-0003-2404-9397
authors.initials: T
authors.lastname: Kallinich
authors.affiliation: Charité University Medicine Berlin, Pediatric Pneumology and Immunology, Augustenburger Platz 1, 13353, Berlin, Germany.|Center for Chronically Sick Children of the Charité, Augustenburger Platz 1, 13353, Berlin, Germany.
authors.forename: Anne
authors.initials: A
authors.lastname: Thorwarth
authors.affiliation: Charité University Medicine Berlin, Pediatric Pneumology and Immunology, Augustenburger Platz 1, 13353, Berlin, Germany.|Center for Chronically Sick Children of the Charité, Augustenburger Platz 1, 13353, Berlin, Germany.
authors.forename: Sae-Lim
authors.initials: SL
authors.lastname: von Stuckrad
authors.affiliation: Department of Pediatrics, University Clinic Carl Gustav Carus, TU Dresden, Fetscherstr. 74, 01037, Dresden, Germany.
authors.forename: Angela
authors.initials: A
authors.lastname: Rösen-Wolff
authors.affiliation: Department of Pediatrics, University Clinic Carl Gustav Carus, TU Dresden, Fetscherstr. 74, 01037, Dresden, Germany.
authors.forename: Hella
authors.initials: H
authors.lastname: Luksch
authors.affiliation: Charité University Medicine Berlin, Pediatric Oncology and Hematology, Augustenburger Platz 1, 13353, Berlin, Germany.
authors.forename: Patrick
authors.initials: P
authors.lastname: Hundsdoerfer
authors.affiliation: Charité University Medicine Berlin, Pediatric Pneumology and Immunology, Augustenburger Platz 1, 13353, Berlin, Germany.|Center for Chronically Sick Children of the Charité, Augustenburger Platz 1, 13353, Berlin, Germany.|Department of Rheumatology and Clinical Immunology, Charité University Medicine Berlin, Charitéplatz 1, 10117, Berlin, Germany.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Minden
authors.affiliation: Charité University Medicine Berlin, Institute of Medical Genetics and Human Genetics, Augustenburger Platz 1, 13353, Berlin, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Krawitz
mesh_terms: D001171:Arthritis, Juvenile / Q000235:genetics*; D002648:Child; D059472:Exome / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C000614085:LACC1 protein, human; D011506:Proteins
keywords: Exome sequencing, FAMIN, LACC1; Systemic juvenile idiopathic arthritis