Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica

Abstract

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.

Keywords

• amyloidosis cutis dyschromic
• primary cutaneous amyloidosis
• gpnmb gene