摘要：Abstract Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of {LS} difficult. We screened our patients with {LS} using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain complexes I (ND1–ND6, and ND4L), IV(SURF1), and V(ATP6) and the pyruvate dehydrogenase E1α-subunit. Of 18 {LS} patients, we identified mutations in 11 patients, including 7 in mDNA (two with ATP6), 4 in nuclear (three with SURF1). Overall, we identified mutations in 61% of {LS} patients (11/18 individuals) in this cohort. Sanger sequencing with our limited set of primers allowed us a rapid genetic confirmation of more than half of the {LS} patients and it appears to be efficient as a primary genetic screening in this cohort.
关键词：Leigh syndrome; Complex I deficiency; Heteroplasmy; mDNA mutation
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