ARMC5 gene detection kit and mutation site

Abstract

The invention relates to an ARMC5 gene detection kit and a mutation site; the detection kit is used for an ARMC5 gene. The mutation site is p. R362*(c. 1084C>T), p. A871T (c. 2611G>A), p. R410W (c.1228C>T), p. R888*(c. 2662C>T) or p. A174V (c. 521C>T). The ARMC5 gene detection kit is high in detection sensitivity; after 18 different mutation sites are detected by the detection kit, one mutation site is found to be non-pathogenic mutation, and the reset 17 mutation sites are pathogenic-base ARMC5 gene mutation; therefore, the ARMC5 gene detection kit provides convenience for individualized treatment, prognosis estimation and prevention intervention of a patient clinically.

Description

technical field [0001] The invention belongs to the field of Cushing's syndrome, in particular to an ARMC5 gene detection kit and a mutation site. Background technique [0002] Although the clinical manifestations of PBMAH have been clarified more than 50 years ago, the pathological process of the disease has not been fully clarified. PBMAH exhibit abnormally high secreted cortisol levels while serum ACTH is suppressed. The mechanisms of these phenomena are very complex. Previous studies have suggested that the hypersecretion of cortisol in PBMAH may not be regulated by ACTH but due to the effects of other hormones, and thus it was named ACTH-independent adrenal macronodular hyperplasia (AIMAH). They believe that the zona fasciculate cells of the adrenal cortex in patients with PBMAH stimulate the secretion of cortisol by ectopically expressing G protein-coupled receptors for other hormones. However, it is still unclear whether the expression of these receptors is a prima...

AI Technical Summary

Problems solved by technology

Interestingly, 3 of 7 PBMAH patients in this Brazilian family developed intracranial meningiomas, suggesting that mutations in the ARMC5 gene may lead to the formation of other tumors

However, the follow-up process is very time-consuming and laborious, and many family members who do not carry the gene mutation will suffer additional harm, including problems such as radiation exposure from adrenal imaging studies

There are no reports on ARMC5 gene mutations in Chinese PBMAH patients

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