Discovery of a Chinese Tibetan patient with lipoprotein glomerulopathy due to APOE Osaka/Kurashiki variant
10.3760/cma.j.issn.1003-9406.2020.02.017
- VernacularTitle:APOE Osaka/Kurashiki变异致脂蛋白肾病藏族患者一例
- Author:
Zhi YANG
1
;
Hongyan WU
;
Zhangxue HU
Author Information
1. 四川大学华西医院肾脏内科
- Keywords:
Lipoprotein glomerulopathy;
Tibetan;
APOE Osaka/Kurashiki variant
- From:
Chinese Journal of Medical Genetics
2020;37(2):166-169
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect variant of APOE gene in a Chinese Tibetan patient with lipoprotein glomerulopathy (LPG) confirmed by renal biopsy and to explore its pathogenesis.Methods Clinical and pathological data was collected.DNA was extracted from peripheral blood sample of the patient and subjected to PCR and Sanger sequencing.Pathogenicity of the variant was analyzed by bioinformatics software.Results Renal biopsy of the patient has confirmed the diagnosis of LPG.DNA sequencing suggested that the patient has carried a heterozygous c.527G＞C (p.R176P) variant of the APOE gene (APOE Osaka/Kurashiki).Four cases of LPG have been found to carry the same variant,and the encoded amino acid (p.176R) is highly conserved during evolution.Bioinformatic analysis using SIFT,PolyPhen2 and PANTHER software all predicted the variant to be pathogenic.Conclusion The discovery of author's patient provided further evidence for the pathogenicity of APOE Osaka/Kurashiki and,more importantly,provide new evidence for the multiracial origin of LPG-related APOE variants.
