title: Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.
abstract: We report an 11-year-old boy with short stature, bilateral ptosis, sensorineural hearing loss, muscle weakness, and endocrine abnormalities. Brain magnetic resonance imaging (MRI) showed a bilateral abnormal signal in the globus pallidus and in the midbrain tegment. Muscle biopsy specimens showed ragged red and cytochrome c oxidase negative fibers, and biochemical analysis of muscle homogenate showed a partial defect of complex I and IV activities of the respiratory chain enzymes. Analysis of mitochondrial DNA by a polymerase chain reaction screening procedure and Southern blot revealed a novel heteroplasmic single mitochondrial DNA deletion of 7.8 kb in different tissues. This deletion was absent in the blood DNA of his mother and brother. This case further expands and confirms the wide clinical spectrum of mitochondrial disorders associated with single large-scale mitochondrial DNA deletions.
authors.affiliation: Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Italy.
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.forename: Mauro
authors.initials: M
authors.lastname: Bozzola
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Marina
authors.initials: M
authors.lastname: Pedemonte
authors.forename: Stefania
authors.initials: S
authors.lastname: Assereto
authors.forename: Silvia
authors.initials: S
authors.lastname: Stringara
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
mesh_terms: D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D005917:Globus Pallidus / Q000473:pathology; D006130:Growth Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial; D019382:Human Growth Hormone