Santorelli F M, Mak S C, Vàzquez-Acevedo M, González-Astiazarán A, Ridaura-Sanz C, González-Halphen D, DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Dept. of Neurology, Columbia University, New York, NY, USA.
Biochem Biophys Res Commun. 1995 Nov 22;216(3):835-40. doi: 10.1006/bbrc.1995.2697.
A novel mitochondrial DNA (mtDNA) mutation at position nt 4320 in the tRNA(Ile) gene was associated with severe encephalopathy in a 7-month-old infant, who died of intractable hypertrophic cardiomyopathy. The mutation was present in heteroplasmic fashion (88%) in muscle and fulfills accepted criteria for pathogenicity. This is the fourth pathogenic mutation identified in this gene, which appears to be a "hotspot" for deleterious mutations affecting the heart. This report adds to the evidence of genetic heterogeneity in hypertrophic cardiomyopathies.
在一名7个月大的婴儿中，tRNA（Ile）基因中第4320位核苷酸处的一种新型线粒体DNA（mtDNA）突变与严重脑病相关，该婴儿死于难治性肥厚型心肌病。该突变以异质性形式（88%）存在于肌肉中，符合公认的致病性标准。这是在该基因中鉴定出的第四个致病性突变，该基因似乎是影响心脏的有害突变的“热点”。本报告补充了肥厚型心肌病遗传异质性的证据。
