ICNC Abstracts, ICNC 2018

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Genotype and phenotype analysis of Leigh syndrome involving valine metabolism in 8 Chinese children
Xiaodi Han, Fang Fang, Zhimei Liu

Last modified: 2018-09-09

Abstract


Objective To understand the genotype and phenotype characteristics of children Leigh syndrome involving valine metabolism. Methods The clinical and gene data of Leigh syndrome involving valine metabolism in Beijing Children's Hospital, Capital Medical University from 2016 to 2018 were retrospectively summarized and analyzed. Results There were 8 cases in study, including two kinds of genetic mutations (HIBCH and ECHS1) , all were compound heterozygous mutations. HIBCH mutation(n=4): c.977A>C(p.L326R), c.1027G>C(p.H343D), c.452C>T(p.S151L), c.469C>T(p.R157X), c.750+1G>A(splicing), c.1036G>T(p.V346F), c.750+1G>A(splicing), c.1036G>T(p.V346F). All have not been reported in the literature. ECHS1 mutation(n=4): c.607C>T(p.A203T), c.5G>A(p.A2V), c.463G>A(p.G155S), c.557C>T(p.S186L), c.583G>A(p.G195S), c.463G>A(p.G155S), c.414+5G>A(splicing), c.310C>G(p.Q104E). Only c.5G>A(p.A2V) and c.583G>A(p.G195S) have been reported in the literature. Onset age from 0.5 to 1.5 years old. Major clinical manifestations had the development of backward, dystonia, metabolic acidosis, basal ganglia lesion, increased 2, 3-dihydroxy 2-methylic acid in urine. The 6 cases can see increased 2, 3-dihydroxy 2-methylic acid in urine. Conclusion We found several new mutation sites in Chinese children of ECHS1 mutation and HIBCH mutation. The increased 2, 3-dihydroxy 2-methylic acid in urine were seen in cases of ECHS1 mutation and HIBCH mutation.


Keywords


Leigh syndrome; valine metabolism; genotype; phenotype

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