Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

Am J Hum Genet. 1996 Nov;59(5):1097-107.


Blau syndrome (MIM 186580), first described in a large, three-generation kindred, is an autosomal, dominantly inherited disease characterized by multiorgan, tissue-specific inflammation. Its clinical phenotype includes granulomatous arthritis, skin rash, and uveitis and probably represents a subtype of a group of clinical entities referred to as "familial granulomatosis." It is the sole human model with recognizably Mendelian inheritance for a variety of multisystem inflammatory diseases affecting a significant percentage of the population. A genomewide search for the Blau susceptibility locus was undertaken after karyotypic analysis revealed no abnormalities. Sixty-two of the 74-member pedigree were genotyped with dinucleotide-repeat markers. Linkage analysis was performed under a dominant model of inheritance with reduced penetrance. The marker D16S298 gave a maximum LOD score of 3.75 at theta = .04, with two-point analysis. LOD scores for flanking markers were consistent and placed the Blau susceptibility locus within the 16p12-q21 interval.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Arthritis / genetics*
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16*
  • Female
  • Genetic Linkage
  • Granuloma / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pedigree
  • Skin Diseases / genetics*
  • Syndrome
  • Uveitis / genetics*