Manouvrier S, Rötig A, Hannebique G, Gheerbrandt J D, Royer-Legrain G, Munnich A, Parent M, Grünfeld J P, Largilliere C, Lombes A
Service de Pédiatrie, Hôpital Huriez, Lille, France.
J Med Genet. 1995 Aug;32(8):654-6. doi: 10.1136/jmg.32.8.654.
The A 3243 G mutation of the mitochondrial tRNA(Leu) gene was found to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy, or renal failure in a large pedigree of 35 affected members in four generations. Presenting symptoms almost consistently involved deafness and recurrent attacks of migraine-like headaches, but the clinical course of the disease varied within and across generations. The A 3243 G mutation has been previously reported in association with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome (MELAS) and with diabetes mellitus and deafness. To our knowledge, however, hypertrophic cardiomyopathy is not a common feature in people with the A 3243 G mutation and renal failure has not been hitherto reported in association with this mutation. The present observation gives additional support to the variable clinical expression of mtDNA mutations in humans.
线粒体tRNA（Leu）基因的A3243G突变在一个四代共35名患者的大家系中，与母系遗传的糖尿病、感音神经性耳聋、肥厚型心肌病或肾衰竭相关。出现的症状几乎始终包括耳聋和偏头痛样头痛的反复发作，但疾病的临床病程在代内和代际之间有所不同。此前已有报道称A3243G突变与线粒体脑肌病、乳酸酸中毒和卒中样发作综合征（MELAS）以及糖尿病和耳聋有关。然而，据我们所知，肥厚型心肌病并非A3243G突变人群的常见特征，且此前尚未有肾衰竭与该突变相关的报道。目前的观察结果进一步支持了人类线粒体DNA突变临床表现的多样性。
