Adema A Y, Janssen M C H, van der Heijden J W
Department of Nephrology, VU University Medical Center, Amsterdam, the Netherlands.
Neth J Med. 2016 Dec;74(10):455-457.
Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea, myopathy and fatigue. The diagnosis of mitochondrial disease was made in this patient, which resulted from a novel 09155A>G mutation in the mtDNA. As far as we know, this mutation has never been described before as causing MIDD.
母系遗传的耳聋和糖尿病（MIDD）的特征是胰岛素分泌缺陷和双侧听力障碍。m.3243A>G突变是线粒体DNA（mtDNA）中导致MIDD最常报道的突变，不过也提到过其他罕见的mtDNA点突变。我们报告了一名28岁的白种女性，她有糖尿病、肾病、耳聋、腹泻、肌病和疲劳病史。该患者被诊断为线粒体疾病，其病因是mtDNA中一个新的09155A>G突变。据我们所知，此前从未描述过这种突变会导致MIDD。
