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

Human Genome Variation - Tập 6 Số 1
Shumpei Uchino1, Aritoshi Iida2, Atsushi Sato3, Keiko Ishikawa2, Masakazu Mimaki4, Ichizo Nishino2, Yu‐ichi Goto2
1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan
2Medical Genome Center, NCNP, Tokyo, Japan
3Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
4Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan

Tóm tắt

AbstractLeigh 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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Tài liệu tham khảo

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Human Genome Variation

Tập 6 Số 1

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