Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis.
10.3760/cma.j.issn.1003-9406.2018.01.002
- VernacularTitle:两个原发性限局性皮肤淀粉样变家系的致病突变鉴定
- Author:
Bin MAO
1
,
2
;
Xu YAO
;
Zheng WANG
;
Xiuli ZHAO
Author Information
1. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences
2. School of Basic Medicine, Peking Union Medical College, Beijing 100005, China. Email: xiulizhao@ibms.pumc.edu.cn.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2018;35(1):9-13
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To identify potential mutations in two Chinese families affected with primary localized cutaneous amyloidosis. METHODS Peripheral blood samples of the family were collected with informed consent. Genomic DNA was extracted with a phenol chloroform method. All of the 17 exons and their flanking splicing sites of the OSMR gene were amplified with PCR and subjected to Sanger sequencing. Suspected mutations were verified with PCR - restriction fragment length polymorphism and high-resolution melting assays. RESULTS A missense mutation (c.1538G>A) was found in exon 10 of the OSMR gene in all of the six patients from family 1. A missense mutation (c.2081C>T) was found in exon 14 of the OSMR gene in all of the four patients from family 2. The same mutations were not found among the healthy controls. CONCLUSION Two missense mutations (c.1538G>A and c.2081C>T) were detected in the OSMR gene in two Chinese families affected with primary localized cutaneous amyloidosis. Our findings have further confirmed the pathogenicity of such mutations.
