title: mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.
abstract: A patient was diagnosed in 1974 with the unique combination of Leber hereditary optic neuropathy (LHON) and spondyloepiphyseal dysplasia. The entire mitochondrial DNA (mtDNA) sequence from this patient was determined in order to identify candidate pathogenic mutations. The patient's mtDNA carried the LHON mutation at nucleotide 14484, thus elucidating the etiology of his optic neuropathy. We also identified another ND6 mutation at nucleotide 14420. This latter mutation is probably a clinically benign private polymorphism, although a pathogenic role in his skeletal abnormalities or in his optic neuropathy cannot yet be ruled out.
authors.affiliation: Department of Radiation Oncology, The University of Texas Medical Branch, Galveston, Texas 77555-0656, USA. nhowell@utmb.edu
authors.forename: N
authors.initials: N
authors.lastname: Howell
authors.forename: I
authors.initials: I
authors.lastname: Kubacka
authors.forename: B
authors.initials: B
authors.lastname: McDonough
authors.forename: A B
authors.initials: AB
authors.lastname: Hodess
authors.forename: D H
authors.initials: DH
authors.lastname: Harter
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D004272:DNA, Mitochondrial