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Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

Authors
  • Iwama, Kazuhiro1, 2
  • Takaori, Toru3
  • Fukushima, Ai4
  • Tohyama, Jun5
  • Ishiyama, Akihiko3
  • Ohba, Chihiro1
  • Mitsuhashi, Satomi1
  • Miyatake, Satoko1, 6
  • Takata, Atsushi1
  • Miyake, Noriko1
  • Ito, Shuichi2, 6
  • Saitsu, Hirotomo7
  • Mizuguchi, Takeshi1
  • Matsumoto, Naomichi1
  • 1 Yokohama City University, Department of Human Genetics, Graduate School of Medicine, Yokohama, Japan , Yokohama (Japan)
  • 2 Yokohama City University, Department of Pediatrics, Graduate School of Medicine, Yokohama, Japan , Yokohama (Japan)
  • 3 National Center of Neurology and Psychiatry, Department of Child Neurology, National Center Hospital, Tokyo, Japan , Tokyo (Japan)
  • 4 Niigata Prefecture Hamagumi Medical Rehabilitation Center for Disabled Children, Niigata, Japan , Niigata (Japan)
  • 5 Nishi-Niigata Chuo National Hospital, Department of Pediatrics, Epilepsy Center, Niigata, Japan , Niigata (Japan)
  • 6 Yokohama City University Hospital, Clinical Genetics Department, Yokohama, Japan , Yokohama (Japan)
  • 7 Hamamatsu University School of Medicine, Department of Biochemistry, Hamamatsu, Japan , Hamamatsu (Japan)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Jan 16, 2018
Volume
63
Issue
3
Pages
263–270
Identifiers
DOI: 10.1038/s10038-017-0405-8
Source
Springer Nature
License
Yellow

Abstract

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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