Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency

Ribeiro, CMacário, MCViegas, ATPratas, JSantos, MJSimões, MMendes, CBacalhau, MGarcia, PDiogo, LGrazina, M2017-07-172017-07-172016-11Mitochondrion. 2016 Nov;31:84-88. dhttp://hdl.handle.net/10400.4/2049Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.engProteínas MitocondriaisDoença de LeighDeficiência de Citocromo-c OxidaseIdentification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiencyjournal article10.1016/j.mito.2016.10.004