- A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.
Human genome variation (2019-04-25)
Shumpei Uchino, Aritoshi Iida, Atsushi Sato, Keiko Ishikawa, Masakazu Mimaki, Ichizo Nishino, Yu-Ichi Goto
PMID31016024
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).
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