儿童肉芽肿性关节炎家系成员中NOD2基因E383K替代的不完全外显率。

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

作者信息

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

机构信息

University of Virginia Health System, Charlottesville, USA.

出版信息

Arthritis Rheum. 2009 Jun;60(6):1804-6. doi: 10.1002/art.24532.

DOI:10.1002/art.24532

PMID:19479836

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."

摘要

小儿肉芽肿性关节炎（PGA）迄今已与NOD2基因中的12种不同替代突变相关。我们报告了1例患有NOD2 E383K基因替代突变的6岁女童的PGA病例。对患者家庭成员的基因分型分析显示，她患病的姑姑，以及她无症状的父亲和3个弟弟妹妹，均为E383K替代突变的杂合子。患者的母亲没有NOD2突变。这是首次报道有4名无症状成员携带NOD2基因E383K替代突变的家系，也是首次观察到NOD2“布劳突变”中的任何一种处于无症状携带状态。