CAJ | 학술논문

目的报告1个SLC20A2基因新突变导致的家族特发性基底节钙化症3型(idiopathic basal ganglia calcification 3,IBGC-3)家系,总结和分析其临床表现和遗传特点.方法收集1个IBGC-3家系的临床资料,对家系成员均进行头颅CT检查,对先证者、5例患者、5例无症状成员和100名健康人进行SLC20A2基因测序,并对发现突变的第8外显子进行质粒克隆测序.结果该IBGC-3家系3代共有6例患者出现临床症状,其中男性3例,女性3例,均在青少年期发病,患者均表现为发作性运动诱发运动障碍,先证者合并锥体束征.5例现存患者头颅CT均显示基底节区和皮层下钙化,此外1例无症状成员出现基底节区和皮层下钙化,2例低龄无症状成员出现双侧苍白球钙化.先证者和7例颅内钙化者均存在SLC20A2基因第8外显子c.1086delC缺失突变,2例无颅内钙化家系成员和健康成员对照无此突变.头颅CT钙化严重程度与临床症状之间无明确联系.结论本研究中表现为青少年型发作性运动诱发运动障碍的家族特发性基底节钙化症家系患者为SLC20A2基因突变所致,IBGC-3患者头颅CT钙化严重程度是否与临床症状无关尚需进一步验证.
목적 보고1개SLC20A2기인신돌변도치적가족특발성기저절개화증3형(idiopathic basal ganglia calcification 3,IBGC-3)가계,총결화분석기림상표현화유전특점.방법 수집1개IBGC-3가계적림상자료,대가계성원균진행두로CT검사,대선증자、5례환자、5례무증상성원화100명건강인진행SLC20A2기인측서,병대발현돌변적제8외현자진행질립극륭측서.결과 해IBGC-3가계3대공유6례환자출현림상증상,기중남성3례,녀성3례,균재청소년기발병,환자균표현위발작성운동유발운동장애,선증자합병추체속정.5례현존환자두로CT균현시기저절구화피층하개화,차외1례무증상성원출현기저절구화피층하개화,2례저령무증상성원출현쌍측창백구개화.선증자화7례로내개화자균존재SLC20A2기인제8외현자c.1086delC결실돌변,2례무로내개화가계성원화건강성원대조무차돌변.두로CT개화엄중정도여림상증상지간무명학련계.결론 본연구중표현위청소년형발작성운동유발운동장애적가족특발성기저절개화증가계환자위SLC20A2기인돌변소치,IBGC-3환자두로CT개화엄중정도시부여림상증상무관상수진일보험증.
Objective To describe clinical and genetic feature in a Chinese family with familial idiopathic basal ganglia calcification 3 (IBGC-3) caused by a novel mutation in the SLC20A2 gene.Methods Clinical data was collected from a family with familial IBGC-3.All of the family members underwent cerebral CT.Potential mutation of the SLC20A2 gene were screened in the proband,5 symptomatic patients,5 asymptomatic family members,and 100 healthy Chinese controls.Exon 8 of the SLC20A2 gene was cloned into plasmid and sequenced.Results There were 6 symptomatic patients (3 males and 3 females) in an autosomal dominant pedigree.The patients manifested as juvenile-onset paroxysmal kinesigenic dyskinesia,in addition to pyramidal signs in proband.5 patients alive had calcification in bilateral basal ganglia and subcortical areas.One asymptomatic member also had calcification in the brain; and 2 cases of asymptomatic young members had bilateral globus pallidus calcification.A novel c.1086delC mutation in SLC20A2 gene has been identified in proband and 7 family members with intracranial calcification.The deletion mutation was not found in 2 family members without intracranial calcification and healthy controls members.There is no clear relationship between clinical symptoms and the severity of calcification in cerebral CT.Conclusion Familial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia.Further study should be done to validate the unrelated relationships between the severity of calcification in IBGC 3 cranial CT and clinical symptoms.