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

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 seque...

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Detalles Bibliográficos
Autores principales: Uchino, Shumpei, Iida, Aritoshi, Sato, Atsushi, Ishikawa, Keiko, Mimaki, Masakazu, Nishino, Ichizo, Goto, Yu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474858/
https://www.ncbi.nlm.nih.gov/pubmed/31016024
http://dx.doi.org/10.1038/s41439-019-0050-1
Descripción
Sumario: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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