Abstract: Objective: To detect the pathogenetic gene mutation of OSMR in primary cutaneous amyloidosis (PCA). Methods: Genomic DNA was extracted from peripheral blood of 3 patients and 23 normal familial members. The exons 15 of OSMR gene were amplifyed by PCR and the products were directly sequenced. Results: Missense mutation (c.2081C>T) of OSMR gene was identified in three patients, which was not found in the healthy family members. Conclusion: In this pedigree, the missense mutation of exon 15 of OSMR gene is related with the morbidity of PCA.

Key words: primary cutaneous amyloidosis, oncostatin M receptor, gene mutaotion