title: NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: Ophthalmic Laboratories & Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University, Chengdu, PR China.
authors.forename: Haotian
authors.initials: H
authors.lastname: Xiang
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Mengping
authors.initials: M
authors.lastname: Chen
authors.forename: Xiaomin
authors.initials: X
authors.lastname: Zhou
authors.forename: Zhen
authors.initials: Z
authors.lastname: Li
authors.forename: Naihong
authors.initials: N
authors.lastname: Yan
authors.forename: Shiguang
authors.initials: S
authors.lastname: Li
authors.forename: Yu
authors.initials: Y
authors.lastname: Han
authors.forename: Qiyong
authors.initials: Q
authors.lastname: Gong
authors.forename: Xuyang
authors.initials: X
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000368:Aged; D019943:Amino Acid Substitution; D019393:Arrestin / Q000235:genetics*; D001168:Arthritis; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003389:Cranial Nerve Diseases / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012507:Sarcoidosis; D017422:Sequence Analysis, DNA; D013585:Synovitis / Q000235:genetics*; D014605:Uveitis / Q000235:genetics*; D055815:Young Adult; D056660:Hereditary Autoinflammatory Diseases
chemical_list: D019393:Arrestin; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein