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

doi:10.1002/art.24532

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

Ophthalmology

Research output: Contribution to journal › Article › peer-review

29 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 language	English (US)
Pages (from-to)	1804-1806
Number of pages	3
Journal	Arthritis and rheumatism
Volume	60
Issue number	6
DOIs	https://doi.org/10.1002/art.24532
State	Published - Jun 2009

ASJC Scopus subject areas

Immunology and Allergy
Rheumatology
Immunology
Pharmacology (medical)

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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.{"}",

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T1 - Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree

AU - Saulsbury, Frank T.

AU - Wouters, Carine H.

AU - Martin, Tammy M.

AU - Austin, Carrie R.

AU - Doyle, Trudy M.

AU - Goodwin, Kelly A.

AU - Rosé, Carlos D.

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N2 - 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."

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

Abstract

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