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

• Main Author: Ribeiro, C
• Publication Date: 2016
• Other Authors: Macário, MC, Viegas, AT, Pratas, J, Santos, MJ, Simões, M, Mendes, C, Bacalhau, M, Garcia, P, Diogo, L, Grazina, M
• Format: Article
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: http://hdl.handle.net/10400.4/2049
• topic: Proteínas Mitocondriais; Doença de Leigh; Deficiência de Citocromo-c Oxidase

Leigh 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.