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Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree
Arthritis & Rheumatism, 06/08/09

Saulsbury FT et al. - The authors 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.

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Carlos D. Rosé, 06/10/09

This is the first reported family with asymptomatic carrying of a pathogenic NOD2 mutation

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