Keans Sayre Syndrome: MLPA detection of a large deletion in mtDNA, missed by Long-range PCR.

MAYORGA L; LAURITO S; LOOS M; EIROA H; DE PINHO S; LUBIENIECKI F; ARROYO H; ROQUÉ M

Simposio; United Mitrochondrial Disease Foundation Symposium; 2014

Mitochondrial diseases are among the most frecuent inborn errors of metabolism. The complexity of the mitochondrial machinery and its dual genetic origin, make them a heterogeneous goup of illnesses with a challenging diagnostic approach. Genetic diagnosis starts looking for rearrangements in the 16.5 kb mtDNA. To detect deletions, Long-range PCR has become the most popular method, drawing back the use of Southern Blot. MLPA is used to detect copy number variations in nuclear genes, but its use in mtDNA has not yet been applied widely. We present here a Kearns Sayre Syndrome patient, with a large mitochondrial DNA deletion that was detected by MLPA using an enhanced normalization process.