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

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...

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Bibliographic Details
Published in:American journal of human genetics 1996-11, Vol.59 (5), p.1097-1107
Main Authors: TROMP, G, KUIVANIEMI, H, KORN, R, MADHATHERI, S, MCCARRON, S, PULKKINEN, L, PUNNETT, H, SHIMOYA, K, SPOTILA, L, TATE, A, WILLIAMS, C. J, RAPHAEL, S, ALA-KOKKO, L, CHRISTIANO, A, CONSIDINE, E, DHULIPALA, R, HYLAND, J, JOKINEN, A, KIVIRKKO, S
Format: Article
Language:English
Subjects:
Adolescent
Adult
Arthritis - genetics
Biological and medical sciences
Child
Chromosome Mapping
Chromosomes, Human, Pair 16
Complex syndromes
Female
Genetic Linkage
Granuloma - genetics
Humans
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
Pedigree
Skin Diseases - genetics
Syndrome
Uveitis - genetics
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Summary: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.
ISSN:0002-9297
1537-6605