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

• Autor(es): Ribeiro, C ; Macário, MC ; Viegas, AT ; Pratas, J ; Santos, MJ ; Simões, M ; Mendes, C ; Bacalhau, M ; Garcia, P ; Diogo, L ; Grazina, M
• Data: 2016
• Identificador Persistente: http://hdl.handle.net/10400.4/2049
• Origem: Repositório do Centro Hospitalar e Universitário de Coimbra
• Assunto(s): Proteínas Mitocondriais; Doença de Leigh; Deficiência de Citocromo-c Oxidase
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): RIHUC

Descrição

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.