A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification a

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in

Chinese Patients

Yan Ding;Hui-Qing Dong

【期刊名称】《中华医学杂志（英文版）》 【年(卷),期】2024(131)007

【摘要】Background:Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration.In this study,we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients.Methods:Clinical information of the proband and her relatives were collected comprehensively.Blood samples of both the patient and her father were obtained,and genetic screening related to IBGC was performed

using

second

generation

sequencing

with

their

consent.Findings were confirmed by Sanger sequencing.Polyphen-2 was used to predict the potential association between mutations and disease.Then,we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype.Results:A novel mutation was identified through genetic testing,and it is suggested to be a damage mutation predicted by Polyphen-2.Through