A new c.1845A -> T of oncostatin M receptor-beta mutation and slightly enhanced oncostatin M receptor-beta expression in a Chinese family with primary localized cutaneous amyloidosis

作者：Wang, Wen-hui; Li, Lin-feng^*; Huang, Er-shun; Zhang, Qian; Sun, Ting-ting; Song, Qing-hua; Xu, Min-li; Chen, Xue-rong

来源：European Journal of Dermatology, 2012, 22(1): 29-33.

DOI：10.1684/ejd.2011.1565

• amyloidosis
• gene
• interleukin-31
• oncostatin M receptor-beta
• skin

Primary localized cutaneous amyloidosis (PLCA) is a chronic itching skin disease with amyloid material deposited in the upper dermis. PLCA is more common in Southeast Asia and South America, where up to 10% of cases may be familial. Mutations of OSMR or IL31RA have been identified in PLCA. Here we detected a new OSMR mutation in a lichenoid PLCA family from north China. This is the first report of PLCA with gene mutation on the Chinese mainland. A heterozygous 1845A -> T was found in exon 13 of the proband, causing p.Lys615Asn substitution, which was not found in screening 100 ethnically matched healthy controls. The particular mutated amino acid is well conserved throughout various evolutionary lineages, located within the second fibronectin III-like domain of oncostatin M receptor beta subunit (OSMR beta), and in close vicinity to a previously reported mutation, p.Gly618Ala. Immunohistochemistry showed slightly enhanced OSMR beta expression in the lesion of the proband. This study extends the knowledge of PLCA gene mutation and further supports the pathogenic role of OSMR beta in PLCA.

• 出版日期2012-2
• 单位北京大学