Genes · 13 authors, 11 centres
This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.
This cohort study describes the molecular and clinical characterization of 40 Portuguese patients with Leigh Syndrome Spectrum using next-generation sequencing. The majority of patients carried mitochondrial DNA mutations, with nearly half involving the MT-ATP6 gene, and novel mutations were identified expanding the known mutational spectrum.
This study describes a Portuguese cohort of 40 patients with Leigh Syndrome Spectrum (LSS), aged from birth to 36 years. Molecular characterization was performed using a custom targeted nuclear gene panel by NGS encompassing 209 genes, full mtDNA sequencing, and Sanger confirmation. A total of 28 patients harbored mutations in mtDNA and 12 in nDNA, with novel mutations identified in heterogeneous genes. Forty-eight percent of patients presented mutations in the MT-ATP6 gene, higher than reported in other cohorts. Common MT-ATP6 mutations included m.8993T>G/C with heteroplasmy over 95%. Other mtDNA mutations were found in MT-TL1, MT-ND3, MT-ND5, MT-ND1, and MT-CO1, and one patient carried a single large-scale mtDNA deletion. Among nDNA patients, complex I and complex IV genes were most frequently affected.
