A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
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ABSTRACT:
SUBMITTER: Uchino S
PROVIDER: S-EPMC6474858 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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A novel compound heterozygous variant of <i>ECHS1</i> 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 <i>ECHS1</i>, 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 <i>ECHS1</i>, consisting of NM_004092.4:c.23T>C (p.Leu8Pro) and NM_00 ...[more]
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