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


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

SUBMITTER: Tromp G 

PROVIDER: S-EPMC1914842 | biostudies-literature | 1996 Nov

REPOSITORIES: biostudies-literature

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

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

American journal of human genetics 19961101 5


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 affecti  ...[more]

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