[P1-153] The Clinical and Genetic Characteristics in Children with Leigh Syndrome
[Introduction] To analyze clinical and genetic characteristics of children with Leigh syndrome in China.
[Methodology] We applied the targeted gene capture and the NGS technology in patients with clinical diagnosed Leigh syndrome. Comparing and analysis the difference in onset age,clinical manifestations, laboratory and MRI results between the two groups of mitochondrial DNA (mtDNA) mutation and nuclear gene (nDNA) mutation.
[Results] 35 patients were gene diagnosed (20 males&15 females). Initially symptoms with developmental delay, developmental regression, abnormal walking posture, ptosis, ataxia,seizures and external ophthalmoplegia.
Hypotonic and hypertrichosis were more common in COXIV and pyruvate dehydrogenase complexes (PDHc) groups, while COXI group was more likely to appear hypertonia. The PDHc group had the high incidence of seizures. Developmental delay and failure to thrive were more common in COX IV, V and PDHc groups.
The results of neuroimaging revealed all the patients were involved in the brainstem and/or basal ganglia, of which 27 were brainstem involvement, 16/27 patients combined with basal ganglia lesion. 24 cases involved in basal ganglia. Medulla oblongata and cerebellar involvement were more common in nDNA mutation group.
Genetic etiology was confirmed in all patients, 17/35 cases with mtDNA mutation(8993T>C/G; 14487T>C; 13513G>A; 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A). Remaining 18 cases were nDNA mutation, including SURF1, PDHA1 and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7.
[Conclusions]In our study, 74.3% of patients had onset within 2y old. SURF1 mutation was the most common causes of LS in this study, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.
[Methodology] We applied the targeted gene capture and the NGS technology in patients with clinical diagnosed Leigh syndrome. Comparing and analysis the difference in onset age,clinical manifestations, laboratory and MRI results between the two groups of mitochondrial DNA (mtDNA) mutation and nuclear gene (nDNA) mutation.
[Results] 35 patients were gene diagnosed (20 males&15 females). Initially symptoms with developmental delay, developmental regression, abnormal walking posture, ptosis, ataxia,seizures and external ophthalmoplegia.
Hypotonic and hypertrichosis were more common in COXIV and pyruvate dehydrogenase complexes (PDHc) groups, while COXI group was more likely to appear hypertonia. The PDHc group had the high incidence of seizures. Developmental delay and failure to thrive were more common in COX IV, V and PDHc groups.
The results of neuroimaging revealed all the patients were involved in the brainstem and/or basal ganglia, of which 27 were brainstem involvement, 16/27 patients combined with basal ganglia lesion. 24 cases involved in basal ganglia. Medulla oblongata and cerebellar involvement were more common in nDNA mutation group.
Genetic etiology was confirmed in all patients, 17/35 cases with mtDNA mutation(8993T>C/G; 14487T>C; 13513G>A; 9176T>C, 10158T>C, 3697G>A, 10191T>C, 14459A>G and 11777C>A). Remaining 18 cases were nDNA mutation, including SURF1, PDHA1 and one case each of NDUFV1, NDUFAF6, NDUFAF5, NDUFS1 and COQ7.
[Conclusions]In our study, 74.3% of patients had onset within 2y old. SURF1 mutation was the most common causes of LS in this study, followed by 8993T>C/G, 14487 T>C and 13513G>A mutation.