关键词: 淀粉样变，家族性, OSMR基因, 突变，误义

Abstract: Zhou Yun*, Cao Xianwei, Xu Guiwen, Wu Hongxuan, Guo Zhuxiu, Chen Li. *Department of Dermatology, First Affiliated Hospital of Nanchang University, Nanchang 330006, China Corresponding author: Cao Xianwei, Email: ndyfyygk@163.com 【Abstract】 Objective To identify mutations in the OSMR gene in a pedigree with familial primary cutaneous amyloidosis （FPCA）. Methods Clinical data were collected from a pedigree with FPCA. Peripheral blood samples were obtained from the proband, his 19 relatives, and 50 unrelated healthy human controls. Genomic DNA was extracted from these blood samples, and subjected to PCR for the amplification of 18 encoding exons and their flanking sequences of the OSMR gene followed by DNA sequencing. Results A heterozygous missense mutation c.2081C > T, which leads to the substitution of proline by threonine at position 694, was detected in the OSMR gene of the proband and his affected relatives, but not in unaffected relatives or healthy controls. Conclusion The heterozygous mutation p.P694L in the OSMR gene may cause the clinical phenotype of FPCA in this family.

Key words: Amyloidosis, familial, Gene, OSMR, Mutation, missense