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A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency

Neuromuscular Diseases Unit Department of Pediatrics University of Genova

Roberta Biancheri, MD

Division of Pediatrics Division of Neuroradiology Istituto "Giannina Gaslini" Genova, Italy

Barbara Garavaglia, PhD

Istituto Nazionale Neurologico "Carlo Besta" Milan, Italy

Claudia Biedi, PhD

Neuromuscular Diseases Unit Department of Pediatrics University of Genova

Andrea Rossi, MD

Division of Neuroradiology Istituto "Giannina Gaslini"

Laura Doria Lamba, MD

Division of Neuropsychiatry Istituto "Giannina Gaslini"

Massimo Bado, MD

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Genova, Italy

Marilena Greco, PhD

Istituo Nazionale Neurologico "Carlo Besta" Milan, Italy

Massimo Zeviani, MD, PhD

Istituo Nazionale Neurologico "Carlo Besta" Milan, Italy

Carlo Minetti, MD

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Genova, Italy

We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive of Leigh disease. Histochemical analysis of skeletal muscle showed decreased cytochrome-c oxidase activity. Biochemical analysis of respiratory chain enzymes in muscle homogenate and in cultured fibroblasts showed isolated cytochrome-c oxidase deficiency. Western blot analysis in fibroblasts showed the absence of Surf1 protein. Genetic analysis of the SURF1 gene revealed that the patient was compound heterozygous for a previously reported mutation at the splice-junction site of intron 3 (240 + 1G > T), and for a novel 4-bp deletion in exon 6 (531_534delAAAT). Our data further enlarge the spectrum of mutations in SURF1 gene in patients with Leigh disease and cytochrome-c oxidase deficiency, contributing to better characterization of the clinical and neuroradiologic features of this group of patients for genotype-phenotype correlations. (J Child Neurol 2002;17:233-236).

Journal of Child Neurology, Vol. 17, No. 3, 233-236 (2002)
DOI: 10.1177/088307380201700318


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