Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica

Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica

Objective: To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica (ACD). Methods: We retrospectively analyzed the clinical data of 9 ACD patients. Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of...

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Bibliographic Details
Main Authors: Wanting FENG, Fangfang WU, Junyi CHEN, Bin YANG
Format: Article
Language:zho
Published: editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology 2021-06-01
Series:Pifu-xingbing zhenliaoxue zazhi
Subjects:
amyloidosis cutis dyschromic
primary cutaneous amyloidosis
gpnmb gene
Online Access:http://pfxbzlx.gdvdc.com/CN/abstract/abstract1941.shtml
Description
Summary:Objective: To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica (ACD). Methods: We retrospectively analyzed the clinical data of 9 ACD patients. Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of their parents. Results: Six patients had homozygous mutation of c. 565C>T. Four of them were identified as autosomal recessive inheritance. Mutation of either c. 660T>G, or c. 1056_1056delT, or c. 754G>A each was found in one patient. Conclusions: c.565C>T may be a common mutation site in ACD patients in China. The pathogenesis and function of the new mutation, c. 754G>A, warrant further study.
ISSN:1674-8468

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