ASSIGNMENT OF GENE RESPONSIBLE FOR PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA TO CHROMOSOME-6 AND EXAMINATION OF COL10A1 AS CANDIDATE GENE

Progressive pseudorheumatoid dysplasia is an autosomal recessive skele tal dysplasia with radiographic changes in the spine similar to Spondy loepiphyseal dysplasia tarda and clinical, though not radiographic res emblance to rheumatoid arthritis. About two-thirds of the reported pat ients are of Arabic and Mediterranean origin which reflects the relati ve high incidence in this population. We performed homozygosity mappin g utilising the DNA pooling approach to map progressive pseudorheumato id dysplasia to a chromosomal region on the long arm of chromosome 6, We examined a possible candidate gene in the same region of linkage, n amely COL10A1, for alterations in this disorder. We did not identify a ny mutations in our family, but did not totally exclude COL10A1 gene f rom being the disease-causing gene.