[PS19-3C-3] The Clinical and Genetic Characteristics of Chinese Children with Leigh Syndrome
Leigh syndrome (LS, OMIM, #256000), also known as subacute necrotizing encephalomyelopathy, is a common childhood onset mitochondrial encephalomyopathy caused by mutation of mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). It typically begins within a year of a child's birth and is a fatal and progressive neurodegenerative disease. Since 2009, the application of NGS (Next Generation Sequencing) technique has improved the diagnostic level of mitochondrial diseases remarkably.
Since 2012, Beijing Children's Hospital, Capital Medical University has gene screened patients with clinically suspected Leigh syndrome with NGS and has found 50 cases that were diagnosed with gene screening. Among those diagnosed ages range from the neonatal period to the age of 4.4y, with slightly more males than females. The initial symptoms include developmental delay, developmental regression, seizures, ptosis, extrapyramidal symptoms, ataxia, digestive symptoms, external ophthalmoplegia and myasthenia. We found three types of Inheritance Patterns, (1) maternal inheritance, which accounts for 44% (2) autosomal recessive inheritance, which accounts for 50% (3) X-linked inheritance, which accounts for 6%. Mt-ATP6 gene mutation is most common in the maternal inheritance group and almost accounts for 45%. Almost accounting for 44%, SURF1 mutation is the most common mutation in autosomal recessive inheritance group.
We found four types of biochemical defects: respiratory chain enzymes defects, pyruvate dehydrogenase complex (PDHc) defects, CoQ defects and others, including TCA cycle (Succinyl CoA ligase, SUCL) defects, valine degradation and mtDNA replication defects.
Since 2012, Beijing Children's Hospital, Capital Medical University has gene screened patients with clinically suspected Leigh syndrome with NGS and has found 50 cases that were diagnosed with gene screening. Among those diagnosed ages range from the neonatal period to the age of 4.4y, with slightly more males than females. The initial symptoms include developmental delay, developmental regression, seizures, ptosis, extrapyramidal symptoms, ataxia, digestive symptoms, external ophthalmoplegia and myasthenia. We found three types of Inheritance Patterns, (1) maternal inheritance, which accounts for 44% (2) autosomal recessive inheritance, which accounts for 50% (3) X-linked inheritance, which accounts for 6%. Mt-ATP6 gene mutation is most common in the maternal inheritance group and almost accounts for 45%. Almost accounting for 44%, SURF1 mutation is the most common mutation in autosomal recessive inheritance group.
We found four types of biochemical defects: respiratory chain enzymes defects, pyruvate dehydrogenase complex (PDHc) defects, CoQ defects and others, including TCA cycle (Succinyl CoA ligase, SUCL) defects, valine degradation and mtDNA replication defects.