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SURF1 missense mutations promote a mild Leigh phenotype

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Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J and Pronicka E. SURF1 missense mutations promote a mild Leigh phenotype.

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 LSSURF 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.
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Keywords: Leigh syndrome; SURF1 gene; mild phenotype; missense mutations; natural history

Document Type: Research Article

Affiliations: 1: First Faculty of Medicine, Department of Pediatrics, Charles University in Prague, Czech Republic 2: Department of Medical Genetics Children's Memorial Health Institute, Warsaw, Poland 3: Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland 4: Department of Biochemistry and Experimental Medicine, Children's Memorial Health Institute, Warsaw, Poland 5: Department of Metabolic Diseases, Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland 6: Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland 7: Department of Radiology, Children's Memorial Health Institute, Warsaw, Poland

Publication date: August 1, 2009

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