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

Frank T. Saulsbury, Carine H. Wouters, Tammy M. Martin, Carrie R. Austin, Trudy M. Doyle, Kelly A. Goodwin, Carlos D. Rosé

Research output: Contribution to journalArticle

18 Scopus citations

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."

Original languageEnglish (US)
Pages (from-to)1804-1806
Number of pages3
JournalArthritis and rheumatism
Volume60
Issue number6
DOIs
StatePublished - Jun 1 2009

    Fingerprint

ASJC Scopus subject areas

  • Immunology and Allergy
  • Rheumatology
  • Immunology
  • Pharmacology (medical)

Cite this

Saulsbury, F. T., Wouters, C. H., Martin, T. M., Austin, C. R., Doyle, T. M., Goodwin, K. A., & Rosé, C. D. (2009). Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. Arthritis and rheumatism, 60(6), 1804-1806. https://doi.org/10.1002/art.24532