Villanueva-Mendoza Cristina, Arellanes-García Lourdes, Cubas-Lorenzo Victoria, Jimenez-Martinez Maria C, Flores-Suárez Luis Felipe, Zenteno Juan Carlos
Asociación para Evitar la Ceguera en México, Genetics, México City, Mexico.
Ophthalmic Genet. 2010 Sep;31(3):155-8. doi: 10.3109/13816810.2010.492818.
Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactyly. We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
PCR amplification and automated DNA sequencing of the complete CARD15/NOD2 coding sequence was performed.
Molecular analysis in affected subjects disclosed a heterozygous c.1147G>C point mutation in CARD15/NOD2 exon 4, that predicts a p.E383K change at the protein level.
Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/NOD2 gene is helpful in the diagnosis.
布劳综合征是一种罕见的常染色体显性疾病，其特征为早发性肉芽肿性关节炎、葡萄膜炎、皮疹和屈曲指。我们报告1例与CARD15/NOD2突变相关的布劳综合征家族病例。
对CARD15/NOD2完整编码序列进行PCR扩增和自动DNA测序。
对受累受试者的分子分析显示，CARD15/NOD2外显子4存在杂合性c.1147G>C点突变，该突变在蛋白质水平预测p.E383K改变。
儿童葡萄膜炎的鉴别诊断应考虑布劳综合征，CARD15/NOD2基因的遗传分析有助于诊断。
