Journal
JOURNAL OF HUMAN GENETICS
Volume 63, Issue 3, Pages 263-270Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s10038-017-0405-8
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Funding
- Research on Measures for Intractable Diseases, Comprehensive Research on Disability Health and Welfare
- Strategic Research Program for Brain Science (SRPBS)
- Practical Research Project for Rare/Intractable Diseases
- Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development
- Ministry of Education, Culture, Sports, Science, and Technology of Japan
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- Ministry of Health, Labor and Welfare
- Takeda Science Foundation
- Grants-in-Aid for Scientific Research [16H05357, 17K15630] Funding Source: KAKEN
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Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy. Three novel mutations were identified: c.836 G > A (p.Arg279His), c.1099-1 G > A (p.Val367Trpfs*2), and c.79 C > T (p.Gln27*). Both patients had compound heterozygous mutations with a combination of protein-truncation mutation and missense mutation, the latter shared by them both. This survey of two patients with recessive and novel MSTO1 mutations provides additional clinical and genetic information on the pathogenicity of MSTO1 in humans.
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