IBA57基因突变致多发性线粒体功能障碍综合征1例  

Multiple mitochondrial dysfunction syndrome caused by IBA57 gene mutation:a case report

作　　者：马乐[1] 郭张妍 王义[1] Ma Le;Guo Zhangyan;Wang Yi(Department of Intensive Care Medicine,Children’s Hospital Affiliated to Xi’an Jiaotong University,Xi’an Children’s Hospital,Xi’an 710003,China)

机构地区：[1]西安交通大学附属儿童医院,西安市儿童医院儿童重症医学科,西安710003

出　　处：《国际遗传学杂志》2024年第5期389-394,共6页International Journal of Genetics

摘　　要：目的探讨IBA57基因突变致多发性线粒体功能障碍综合征的临床特征及遗传学信息。方法留取患儿及其父母外周血,对患儿基因组DNA进行全外显子测序筛查可能存在的基因变异,Sanger测序进行家系验证。结果患儿,男,1月2天,临床上表现为精神萎靡、呼吸衰竭、肌张力低下等症状,影像学表现为脑白质病变,测序结果显示患儿IBA57基因存在c.24delA(p.G9Afs*63)和c.316A>G(p.T106A)复合杂合变异,分别遗传自其父亲和母亲。文献数据库未见c.24del(p.G9Afs*63)位点变异的相关文献报道,c.316A>G(p.T106A)变异目前已有文献报道,根据美国医学遗传学与基因组学学会指南,判定为可能致病性变异。结论IBA57基因c.24delA(p.G9Afs*63)和c.316A>G(p.T106A)杂合变异,是导致该患儿多发性线粒体功能障碍综合征的突变位点。本研究结果加强了对该类疾病的临床特征和遗传性病因认识,同时扩展了IBA57基因的变异谱。Objective To investigate the clinical characteristics and genetic information of multiple mitochondrial dysfunction syndrome caused by IBA57 gene mutation.Methods Peripheral blood of the children and their parents were collected,whole-exome sequencing was performed to screen for potential genetic variation in this children and Sanger sequencing was performed for family verification.Results The baby boy was one month and two days old.The clinical symptoms were listlessness,respiratory failure,hypotonia and so on.Imaging manifestations were leukoencephalopathy.Sequencing revealed that the child has carried compound heterozygous variants of the IBA57 gene,namely c.24delA(P.9AFS*63)and c.316A>G(p.T106A),which were respectively inherited from his mother and father.The mutations of c.24del(p.G9Afs*63)was newly discovered mutation.The mutations of c.316A>G(p.T106A)has been reported in the literature,and it was determined to be a possible pathogenic variant.Conclusion The c.24delA(p.G9Afs*63)and c.316A>G(p.T106A)compound heterozygous mutations of IBA57 gene may be the pathogenic genes of multiple mitochondrial dysfunction syndrome.The results of this study has strengthened the understanding of the clinical characteristics and genetic etiology of this disease and expanded the mutation spectrum of the IBA57 gene.

关 键 词：多发性线粒体功能障碍综合征 IBA57基因 脑白质 线粒体 铁硫蛋白 

分 类 号：R725.9[医药卫生—儿科]