A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

TitleA novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Publication TypeJournal Article
Year of Publication2002
AuthorsBruno, C, Biancheri, R, Garavaglia, B, Biedi, C, Rossi, A, Lamba, LDoria, Bado, M, Greco, M, Zeviani, M, Minetti, C
JournalJ Child Neurol
Volume17
Issue3
Pagination233-6
Date Published2002 Mar
ISSN0883-0738
KeywordsBiopsy, Blotting, Southern, Brain, Cytochrome-c Oxidase Deficiency, DNA Mutational Analysis, Humans, Infant, Leigh Disease, Magnetic Resonance Imaging, Male, Membrane Proteins, Muscle, Skeletal, Peripheral Nervous System Diseases, Point Mutation
Abstract

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.

DOI10.1177/088307380201700318
Alternate JournalJ. Child Neurol.
Citation Key10.1177/088307380201700318
PubMed ID12026244