Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.
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."
Saulsbury
Frank T
FT
University of Virginia Health System, Charlottesville, USA.
Wouters
Carine H
CH
Martin
Tammy M
TM
Austin
Carrie R
CR
Doyle
Trudy M
TM
Goodwin
Kelly A
KA
Rosé
Carlos D
CD
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
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein