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

G. Tromp, H. Kuivaniemi, S. Raphael, L. Ala-Kokko, A. Christiano, E. Considine, R. Dhulipala, J. Hyland, A. Jokinen, S. Kivirikko, R. Korn, S. Madhatheri, S. McCarron, L. Pulkkinen, H. Punnett, K. Shimoya, L. Spotila, A. Tate, C. J. Williams

Research output: Contribution to journalArticlepeer-review

128 Scopus citations

Abstract

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 θ = .04, with two-point analysis. LOD scores for flanking markers were consistent and placed the Blau susceptibility locus within the 16p12-q21 interval.

Original languageEnglish (US)
Pages (from-to)1097-1107
Number of pages11
JournalAmerican Journal of Human Genetics
Volume59
Issue number5
StatePublished - 1996
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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