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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-9-28
pubmed:abstractText
SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare. The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients (8 own cases and 11 reported in the literature) were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-) cases described in the literature. Disease onset in the studied group was delayed. Acute failure to thrive and hyperventilation episodes were rare, respiratory failure did not appear before the age of 4 years. Dystonia, motor regression and eye movement dissociation developed slowly. The number of patients who survived 7 years of life totaled 9 out of 15 (60%) in the 'missense group' and 1 out of 26 (4%) patients with mutations leading to truncated proteins. In conclusion: (i) The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, (ii) normal magnetic resonance imaging (MRI) findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase (COX) activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1399-0004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
76
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
195-204
pubmed:meshHeading
pubmed-meshheading:19780766-Adolescent, pubmed-meshheading:19780766-Adult, pubmed-meshheading:19780766-Blotting, Western, pubmed-meshheading:19780766-Case-Control Studies, pubmed-meshheading:19780766-Cell Extracts, pubmed-meshheading:19780766-Child, Preschool, pubmed-meshheading:19780766-DNA Mutational Analysis, pubmed-meshheading:19780766-European Continental Ancestry Group, pubmed-meshheading:19780766-Female, pubmed-meshheading:19780766-Heterozygote, pubmed-meshheading:19780766-Homozygote, pubmed-meshheading:19780766-Humans, pubmed-meshheading:19780766-Infant, pubmed-meshheading:19780766-Leigh Disease, pubmed-meshheading:19780766-Magnetic Resonance Imaging, pubmed-meshheading:19780766-Male, pubmed-meshheading:19780766-Membrane Proteins, pubmed-meshheading:19780766-Mitochondrial Proteins, pubmed-meshheading:19780766-Muscles, pubmed-meshheading:19780766-Mutation, Missense, pubmed-meshheading:19780766-Pedigree, pubmed-meshheading:19780766-Phenotype, pubmed-meshheading:19780766-Proteomics
pubmed:year
2009
pubmed:articleTitle
SURF1 missense mutations promote a mild Leigh phenotype.
pubmed:affiliation
Department of Medical Genetics Children's Memorial Health Institute, Warsaw, Poland. dorota.abr@wp.pl
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't