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Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

From the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, NY.

Address correspondence and reprint requests to Dr. S. DiMauro, 4-420 College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032.

To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns-Sayre syndrome, we identified a heteroplasmic T8993G mutation (average 80%) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.

Supported in part by program project PO1 HD32062 from the National Institute of Child Health and Human Development (NICHD), and by grants from the Muscular Dystrophy Association.

Received November 11, 1996. Accepted in final form December 9, 1996.

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