在中国一个患有布劳综合征的家族中鉴定出NOD2/CARD15基因突变。
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.
作者信息
Xiang Haotian, Zhang Ting, Chen Mengping, Zhou Xiaomin, Li Zhen, Yan Naihong, Li Shiguang, Han Yu, Gong Qiyong, Liu Xuyang
机构信息
Ophthalmic Laboratories & Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, PR China.
出版信息
Mol Vis. 2012;18:617-23. Epub 2012 Mar 9.
PURPOSE
To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene.
METHODS
Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polymerase chain reaction (PCR) and direct DNA sequencing of PCR products was performed for mutations in NOD2/CARD15.
RESULTS
Granulomatous arthritis, uveitis, and skin granulomas were found in all affected members. Sequencing analysis demonstrated a heterozygous C>T mutation in exon 4 of NOD2/CARD15 in all patients of this pedigree, which resulted in an amino acid substitution at position 334 (p.R334W).
CONCLUSIONS
The R334W mutation in NOD2/CARD15 caused Blau syndrome in a Chinese pedigree. This is the first report of R334W mutation in NOD2/CARD15 in a Chinese pedigree of this disease.
目的
描述一个患有布劳综合征的中国家系的临床特征，并鉴定核苷酸结合寡聚化结构域包含2/胱天蛋白酶募集结构域家族成员15（NOD2/CARD15）基因中的突变。
方法
评估该家系的临床特征。从血液样本中获取基因组DNA，通过聚合酶链反应（PCR）扩增NOD2/CARD15的所有外显子，并对PCR产物进行直接DNA测序以检测NOD2/CARD15中的突变。
结果
在所有受影响成员中均发现肉芽肿性关节炎、葡萄膜炎和皮肤肉芽肿。测序分析显示该家系所有患者的NOD2/CARD15第4外显子存在杂合性C>T突变，导致第334位氨基酸发生替代（p.R334W）。
结论
NOD2/CARD15中的R334W突变导致一个中国家系患布劳综合征。这是中国该疾病家系中NOD2/CARD15基因R334W突变的首次报道。
Zotero 插件