MtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia

A patient was diagnosed in 1974 with the unique combination of Leber heredi tary optic neuropathy (LHON) and spondyloepiphyseal dysplasia. The entire m itochondrial DNA (mtDNA) sequence from this patient was determined in order to identify candidate pathogenic mutations. The patient's mtDNA carried th e LHON mutation at nucleotide 14484, thus elucidating the etiology of his o ptic neuropathy. We also identified another ND6 mutation at nucleotide 1442 0. This latter mutation is probably a clinically benign private polymorphis m, although a pathogenic role in his skeletal abnormalities or in his optic neuropathy cannot yet be ruled out. (C) 2001 Wiley-Liss, Inc.