Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome

Da Hye Yoo, Young Chul Choi, Da Eun Nam, Sun Seong Choi, Ji Won Kim, Byung Ok Choi, Ki Wha Chung

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30 Citations (Scopus)


Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p.R205X and p.L255P in the FASTKD2. Each of his unaffected parents has one of the two mutations, and both mutations were not found in 302 controls. FASTKD2 encodes a FAS-activated serine-threonine (FAST) kinase domain 2 which locates in the mitochondrial inner compartment. A FASTKD2 nonsense mutation was once reported as the cause of a recessive infantile mitochondrial encephalomyopathy. The present case showed relatively mild symptoms with a late onset age, compared to a previous patient with FASTKD2 mutation, implicating an inter-allelic clinical heterogeneity. Because this study is the second report of an autosomal recessive mitochondrial encephalomyopathy patient with a FASTKD2 mutation, it will extend the phenotypic spectrum of the FASTKD2 mutation.

Original languageEnglish
Pages (from-to)54-58
Number of pages5
Publication statusPublished - 2017 Jul

Bibliographical note

Funding Information:
This study was supported by Kongju National University (2015) and the Korean Health Technology R&D Project, Ministry of Health & Welfare (HI12C0135 and HI14C3484), and the National Research Foundation funded by the MSIP (2017R1A2A2A05001356), Republic of Korea.

Publisher Copyright:
© 2017

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology


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