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.

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