Milman N, Ursin K, Rødevand E, Nielsen F C, Hansen T V O
Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Scand J Rheumatol. 2009 May-Jun;38(3):190-7. doi: 10.1080/03009740802464194.
Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene.
To report a novel mutation in the NOD2 gene associated with Blau syndrome.
The proband was a 68-year-old ethnic Norwegian male who had uveitis and arthritis since 10 years of age followed by lifelong recurrent arthritis and chronic eye involvement. Genetic analysis showed a heterozygous c.1814 C>A, T605N mutation in NOD2 that has not previously been described. All of his three children had Blau syndrome and had inherited the NOD2 mutation. The proband's first son had exanthema, arthritis, and uveitis from 10 years of age and later presented with granulomatous lymphadenopathy, granulomatous parotitis, and granulomatous intestinal inflammation. The proband's daughter had arthritis, uveitis, and exanthema from 3 years of age. The proband's second son had uveitis, exanthema, and arthritis from 1.5 years of age. None of the cases had any involvement of the heart or lungs.
We report a novel Blau syndrome-associated mutation with an autosomal dominant heritage. Most likely the mutation has arisen de novo in the proband. Genetic counselling and antenatal diagnostics should be available to the involved families.
布劳综合征是一种具有常染色体显性遗传特征的慢性肉芽肿性疾病，其特征为肉芽肿性皮炎、关节炎和葡萄膜炎三联征。它由NOD2基因（也称为CARD15基因）突变引起。
报告一例与布劳综合征相关的NOD2基因新突变。
先证者是一名68岁的挪威男性，自10岁起患有葡萄膜炎和关节炎，随后终生反复出现关节炎和慢性眼部病变。基因分析显示NOD2基因存在杂合的c.1814 C>A，T605N突变，此前未见报道。他的三个孩子均患有布劳综合征并遗传了NOD2突变。先证者的长子自10岁起出现皮疹、关节炎和葡萄膜炎，后来出现肉芽肿性淋巴结病、肉芽肿性腮腺炎和肉芽肿性肠道炎症。先证者的女儿3岁起出现关节炎、葡萄膜炎和皮疹。先证者的次子1.5岁起出现葡萄膜炎、皮疹和关节炎。所有病例均无心脏或肺部受累。
我们报告了一种具有常染色体显性遗传特征的与布劳综合征相关的新突变。该突变很可能是先证者新发的。应为相关家庭提供遗传咨询和产前诊断。
