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

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 patie...

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Bibliographic Details
Published in:Mitochondrion 2016-11, Vol.31, p.84-88
Main Authors: 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
Format: Article
Language:English
Subjects:
Adult
Child
Cytochrome-c Oxidase Deficiency
Genes
Humans
Leigh Disease - diagnosis
Leigh Disease - pathology
Male
Membrane Proteins - deficiency
Mitochondrial Proteins - deficiency
Sequence Deletion
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Summary: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.
ISSN:1567-7249
1872-8278
DOI:10.1016/j.mito.2016.10.004