Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-01-16

AUTHORS

Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto

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. More... »

PAGES

263-270

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-017-0405-8

DOI

http://dx.doi.org/10.1038/s10038-017-0405-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100422201

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29339779


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32 schema:description 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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39 schema:keywords MSTO1
40 MSTO1 mutations
41 Misato 1
42 atrophy
43 cerebellar atrophy
44 clinical manifestations
45 combination
46 compound heterozygous mutations
47 delay
48 developmental delay
49 disability
50 distribution
51 dysfunction
52 genetic information
53 heterozygous mutations
54 humans
55 information
56 inheritance
57 intellectual disability
58 manifestations
59 missense mutations
60 mitochondrial distribution
61 mitochondrial dysfunction
62 mode
63 morphology
64 morphology regulator
65 motor developmental delay
66 muscle weakness
67 mutations
68 novel MSTO1 mutations
69 novel mutations
70 novel recessive mutation
71 pathogenicity
72 pathogenicity of MSTO1
73 patients
74 pigmentary retinopathy
75 protein-truncation mutations
76 recessive mode
77 recessive mutations
78 regulator
79 retinopathy
80 sequencing
81 short stature
82 stature
83 survey
84 unrelated patients
85 weakness
86 whole-exome sequencing
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