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

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Mitochondrion, ISSN: 1872-8278, Vol: 31, Page: 84-88

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Ribeiro, Carolina; do Carmo Macário, Maria; Viegas, Ana Teresa; Pratas, João; Santos, Maria João; Simões, Marta; Mendes, Cândida; Bacalhau, Mafalda; Garcia, Paula; Diogo, Luísa; Grazina, Manuela Show More Hide
Elsevier BV
Biochemistry, Genetics and Molecular Biology; Proteínas Mitocondriais; Doença de Leigh; Deficiência de Citocromo-c Oxidase
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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.