A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Shumpei Uchino,Keiko Ishikawa,Yu-Ichi Goto,Masakazu Mimaki,Atsushi Sato,Ichizo Nishino,Aritoshi Iida

doi:10.1038/s41439-019-0050-1

Shumpei Uchino, Keiko Ishikawa + Show 5 more

Open Access

https://doi.org/10.1038/s41439-019-0050-1

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Abstract

Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in ECHS1, which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome sequencing, we diagnosed a Japanese patient with LS and identified the patient as a compound heterozygote for a novel variant of ECHS1, consisting of NM_004092.4:c.23T>C (p.Leu8Pro) and NM_004092.4:c.176A>G (p.Asn59Ser).

Highlights

Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction
ECHS1 on chromosome 10q26.3 encodes a short-chain enoyl-coenzyme A hydratase that localizes in the mitochondrial matrix and catalyzes the hydration of enoylCoA in many metabolic pathways, including short-chain fatty acid β-oxidation and branched-chain amino acid catabolism
ECHS1 has been reported as a novel causative gene for LS2,3

Summary

Open Access

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome. Shumpei Uchino[1,2,3], Aritoshi Iida 4, Atsushi Sato[3], Keiko Ishikawa[4], Masakazu Mimaki[2], Ichizo Nishino 4,5 and Yu-ichi Goto[1,4]

Official journal of the Japan Society of Human Genetics

Findings

HGV database