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G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid Lys Gene: Another Cause of Leigh Syndrome

H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons

Sara Shanske, PhD

H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases Department of Neurology Columbia University College of Physicians and Surgeons

Svetlana Goodman, MS

H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons

Carolyn M. Sue, MD, PhD

H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons

Claudio Bruno, MD

H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons

Theodore L. Johnson, MD

Southwestern Vermont Medical Center, Bennington, Vermont

Neil S. Lava, MD

Albany Medical College, Albany, New York

Nasir Waheed, MD

Medical University of South Carolina, Charleston, South Carolina

Salvatore DiMauro, MD

H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, sd12{at}columbia.edu

We identified a GA transition at nt-8363 in the mitochondrial DNA transfer ribonucleic acid ^Lys gene in blood and muscle from a 13-month-old girl who had clinical and neuroradiologic evidence of Leigh syndrome and died at age 27 months. The mutation was less abundant in the same tissues from the patient's mother, who developed myoclonus epilepsy with ragged red fibers (MERRF) in her late 20s. In both mother and daughter, muscle histochemistry showed ragged red and cytochrome c oxidase-negative fibers and biochemical analysis showed partial defects of multiple respiratory-chain enzymes. A maternal half-sister of the proband had died at 2.5 years of age from neuropathologically proven Leigh syndrome. The G8363A mutation, which previously had been associated with cardiomyopathy and hearing loss, MERRF, and multiple lipomas, also should be included in the differential diagnosis of maternally inherited Leigh syndrome. (J Child Neurol 2000;15:759-761).

Journal of Child Neurology, Vol. 15, No. 11, 759-761 (2000)
DOI: 10.1177/088307380001501109


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