Santorelli F M, Schlessel J S, Slonim A E, DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University, New York, USA.
Pediatr Neurol. 1996 Sep;15(2):145-9. doi: 10.1016/0887-8994(96)00163-4.
We describe an A-to-G transition at nucleotide 10044 in the tRNA(Gly) gene of mitochondrial DNA in a sibship in which the proband died at age 8 years after a severe encephalopathy, a brother died of sudden and unexpected death, and the other six siblings had a combination of symptoms, including apparent life-threatening events and gastroesophageal reflux. This novel mutation was very abundant (> 90%) in liver and muscle of the proband and in several tissues, including blood, from his affected siblings (range 91-99%) but was less abundant in blood from the asymptomatic mother (88%) and maternal grandmother (85%). Our findings further enlarge the spectrum of clinical presentations associated with mitochondrial DNA mutations.
我们描述了一个线粒体DNA的tRNA（甘氨酸）基因中第10044位核苷酸由A到G的转变，该转变发生在一个家族中。在这个家族里，先证者在8岁时因严重脑病死亡，一个兄弟死于突然且意外的死亡，另外六个兄弟姐妹有一系列症状，包括明显危及生命的事件和胃食管反流。这个新突变在先证者的肝脏和肌肉中以及其患病兄弟姐妹的多个组织（包括血液）中非常丰富（> 90%），但在无症状母亲（88%）和外祖母（85%）的血液中含量较低。我们的发现进一步扩大了与线粒体DNA突变相关的临床表现谱。
