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Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.

Arthritis and Rheumatism

Pedigree, Adult, genetics, Nod2 Signaling Adaptor Protein, Mutation, Male, Infant, Humans, Heterozygote, Female, Child, Preschool, Child, diagnosis, Arthritis

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      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."

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      Journal
      10.1002/art.24532
      19479836

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