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).

中文翻译：

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在日本Leigh综合征患者中鉴定出的新型ECHS1复合杂合体变体

Leigh综合征（LS）是由线粒体功能障碍引起的异质性神经退行性疾病。某些LS病例的ECHS1突变，该突变编码一种短链烯酰辅酶A水合酶，参与线粒体中脂肪酸和支链氨基酸的代谢。使用外显子组测序，我们诊断出一名患有LS的日本患者，并将该患者鉴定为ECHS1新型变体的复合杂合体，该变体由NM_004092.4：c.23T> C（p.Leu8Pro）和NM_004092.4：c.176A组成> G（p.Asn59Ser）。