Abstract：ObjectiveTo explore the clinical characteristics and gene mutations of a family with maternally inherited diabetes and deafness (MIDD).MethodsA 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. ResultsAmong 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 3243A＞G mutation, of which 3 had mtDNA 10398A＞G mutation and mtDNA 15043G＞A mutation. ConclusionsThe 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 3243A＞G mutation is the main cause of MIDD in this family.
