Dataset Information

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

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).

SUBMITTER: Uchino S

PROVIDER: S-EPMC6474858 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Uchino Shumpei S Iida Aritoshi A Sato Atsushi A Ishikawa Keiko K Mimaki Masakazu M Nishino Ichizo I Goto Yu-Ichi YI

Human genome variation 20190419

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_00 ...[more]

PMID: 31016024

Dataset Information

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

Publications

A novel compound heterozygous variant of <i>ECHS1</i> identified in a Japanese patient with Leigh syndrome.

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