title: Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.
abstract: Pediatric granulomatous arthritis (PGA) has been associated with 12 different substitutions in the NOD2 gene thus far. We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution. Genotype analysis of the patient's family members revealed that her affected paternal aunt, as well as her asymptomatic father and 3 younger siblings, were heterozygous for the E383K substitution. The patient's mother did not have a NOD2 mutation. This is the first report of a pedigree in which 4 asymptomatic members carry the E383K substitution in NOD2, as well as the first observation of an asymptomatic carrier state for any of the NOD2 "Blau mutations."
authors.affiliation: University of Virginia Health System, Charlottesville, USA.
authors.forename: Frank T
authors.initials: FT
authors.lastname: Saulsbury
authors.forename: Carine H
authors.initials: CH
authors.lastname: Wouters
authors.forename: Tammy M
authors.initials: TM
authors.lastname: Martin
authors.forename: Carrie R
authors.initials: CR
authors.lastname: Austin
authors.forename: Trudy M
authors.initials: TM
authors.lastname: Doyle
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Goodwin
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Rosé
mesh_terms: D000328:Adult; D001168:Arthritis / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010375:Pedigree
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein