Kearns Sayre Syndrome: MLPA deteection of a large mitochondrial DNA deletion, missed by Long-range PCR

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

Pittsburgh

Congreso; Mitochondrial Medicine Scientific Meetings 2014; 2014

United Mitochondrial Disease Foundation

Mitochondrial diseases are among the most frequent inborn errors of metabolism. The complexity of the mitochondrial machinery and its dual genetic origin, make them a heterogeneous group of illnesses with callenging diagnostic approach. Genetics 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