TY - JOUR
T1 - Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16
AU - Tromp, G.
AU - Kuivaniemi, H.
AU - Raphael, S.
AU - Ala-Kokko, L.
AU - Christiano, A.
AU - Considine, E.
AU - Dhulipala, R.
AU - Hyland, J.
AU - Jokinen, A.
AU - Kivirikko, S.
AU - Korn, R.
AU - Madhatheri, S.
AU - McCarron, S.
AU - Pulkkinen, L.
AU - Punnett, H.
AU - Shimoya, K.
AU - Spotila, L.
AU - Tate, A.
AU - Williams, C. J.
PY - 1996
Y1 - 1996
N2 - 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.
AB - 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.
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M3 - Article
C2 - 8900239
AN - SCOPUS:19244364857
SN - 0002-9297
VL - 59
SP - 1097
EP - 1107
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 5
ER -