线粒体糖尿病家系MT-TL1基因m.3243A>G突变1例临床特征分析  

Clinical Characteristics of m.3243A>G Mutation in MT-TL1 Gene in a Mitochondrial Diabetes Family:an Analysis of a Case

作　　者：杨玉[1] 吴贵员 黄慧[2] 陈卡[2] 熊婷[1] YANG Yu;WU Gui-yuan;HUANG Hui;CHEN Ka;XIONG Ting(Department of Endocrinology,Genetics and metabolism,the Affiliated Children’s Hospital of Nanchang University,Nanchang 330006,China;Central Laboratory,Jiangxi Provincial Children’s Hospital,the Affiliated Children’s Hospital of Nanchang University,Nanchang 330006,China)

机构地区：[1]江西省儿童医院、南昌大学附属儿童医院内分泌遗传代谢科,南昌330006 [2]江西省儿童医院、南昌大学附属儿童医院中心实验室,南昌330006

出　　处：《南昌大学学报（医学版）》2021年第6期91-95,106,共6页Journal of Nanchang University：Medical Sciences

基　　金：江西省卫生健康委科技计划(20195559)。

摘　　要：目的对线粒体糖尿病的临床特征及基因突变位点进行分析,为该病的早期识别提供依据。方法对161例糖尿病患儿进行筛选,筛查出具有母系遗传特征的线粒体糖尿病家系1例,总结先证者及其7位家系成员的临床表型,并进行酶切筛查及线粒体DNA MT-TL1基因检测。结果该家系成员的主要临床特征为身材矮小、听力障碍、视力受损、智力落后合并乳酸酸中毒。先证者家系有明显的母系遗传特征,三代人中5人携带m.3243 A>G突变,4人患病。结论线粒体糖尿病临床特征不典型,当合并多系统损害且具有母系遗传特征时,需考虑线粒体糖尿病的可能,通过线粒体DNA MT-TL1基因检测可进一步确诊。Objective To analyze clinical characteristics and genetic mutations of mitochondrial diabetes mellitus(MDM),and to provide evidence for early identification of MDM.Methods A total of 161 children with diabetes were screened,and a MDM family with maternal genetic characteristics was found.The clinical phenotypes of the proband and other 7 family members summarized,and enzyme digestion screening and mitochondrial DNA MT-TL1 gene detection were performed.Results The main clinical symptoms of the family were short stature,hearing loss,visual impairment,mental retardation and lactic acidosis.The proband family had obvious maternal genetic characteristics.Five members of the three generations carried m.3243A>G mutation,and 4 of them had MDM.Conclusion The clinical features of MDM are atypical.When patients have multisystem damage and maternal inheritance characteristics,the possibility of MDM should be considered and it can be further confirmed by mitochondrial DNA MT-TL1 gene detection.

关 键 词：线粒体 糖尿病 母系遗传 MT-TL1基因 

分 类 号：R587.2[医药卫生—内分泌] R764.43[医药卫生—内科学]