母系遗传糖尿病伴耳聋综合征的临床特征及基因分析

Clinical characteristics and genetic analysis of a family with maternally inherited diabetes and deafness

目的探讨母系遗传糖尿病伴耳聋综合征(MIDD)家系临床特征及基因突变。方法选择安徽医科大学第一附属医院内分泌与代谢病科2020年4月20日收治的1例MIDD患者,采集其4位家系成员外周血,采用聚合酶链反应对线粒体基因(mtDNA)进行高敏感性测序分析,以明确是否有mtDNA突变。结果参与检测的4位家庭成员中,2例患有MIDD;1例成员有听力下降,但尚未表现为糖尿病;1例成员尚未有听力下降及血糖异常表现。4位家庭成员均有mtDNA 3243 A>G点突变,其中3位有mtDNA 10398 A>G突变与mtDNA 15043 G>A突变。结论本例MIDD患者临床表现较为典型,符合发病早、体型瘦、伴有神经性耳聋及母系遗传的特点;mtDNA 3243 A>G突变为该家系发病的主要原因。

Objective To explore the clinical characteristics and gene mutations of a family with maternally inherited diabetes and deafness(MIDD).Methods A diabetic patient with a family history of MIDD admitted to the Department of Endocrinology and Metabolic Diseases of the First Affiliated Hospital of Anhui Medical University on April 20,2020 was enrolled.The peripheral blood specimens of the 4 family members were collected,sent for examination and subjected to polymerase chain reaction was used for high-sensitivity sequencing analysis of mitochondrial DNA(mtDNA)to determine whether there were mtDNA mutations.Results Among the 4 family members involved in the test,2 patients had MIDD,1 member had hearing loss but did not have diabetes,and 1 member had no hearing loss or abnormal blood sugar.And the 4 family members had mtDNA 3243 A>G mutation,of which 3 had mtDNA 10398 A>G mutation and mtDNA 15043 G>A mutation.Conclusion s The clinical manifestations of MIDD in this family are quite typical,which are consistent with the characteristics of early onset,thin body type,neurological deafness and maternal inheritance.The mtDNA 3243 A>G mutation is the main cause of MIDD in this family.