Article Abstract

The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension

Authors: Wenqing Chen, Bingjue Li, Sha Jia, Qixia Shen, Chong Luo, Yucheng Wang, Shi Feng, Xiujin Shen, Chunhua Weng, Hong Jiang, Jianghua Chen

Abstract

Angiotensinogen (AGT) is an essential member of the renin-angiotensin system (RAS); this system regulates blood pressure and affects the physiological function of the kidney. Studies found that mutations of the human AGT gene are involved in diseases such as recessive renal tubular dysgenesis (RTD) and essential hypertension (EHT). Here, we report a 29-year-old male Chinese with essential hypertension and cystic kidney disease. Exome sequencing analysis of the patient and his parents revealed a mutation in the splice donor site of intron 2 of the AGT gene, c.856+1G>T. This mutation was a heterozygous form and inherited from his mother, and the mother was diagnosed with essential hypertension lasting over 20 years. Function prediction of c.856+1G>T mutation using online software showed this intron mutation may affect protein features by destroying the normal splice site. These findings suggest that this intron mutation of the AGT gene is related to the patient’s essential hypertension and cystic kidney disease.