Mutation analysis of the OSMR gene in a family with familial primary cutaneous amyloidosis
10.3760/cma.j.issn.0412-4030.2014.08.017
- VernacularTitle:家族性原发性皮肤淀粉样变一家系的OSMR基因突变检测
- Author:
Yun ZHOU
;
Xianwei CAO
;
Guiwen XU
;
Hongxuan WU
;
Zhuxiu GUO
;
Li CHEN
- Publication Type:Journal Article
- Keywords:
Amyloidosis,familial;
Gene,OSMR;
Mutation,missense
- From:
Chinese Journal of Dermatology
2014;47(8):591-592
- CountryChina
- Language:Chinese
-
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.
