{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:21:05Z","timestamp":1787026865220,"version":"build-2736575974"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:00:00Z","timestamp":1668643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013064","name":"Key Research and Development Program of Jiangxi Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013064","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>\n                    Misato mitochondrial distribution and morphology regulator 1 (MSTO1) is a nuclear-encoded cytoplasmic protein involved in mitochondrial fusion and distribution. Its disruption causes an extremely rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia. The genotype-phenotype correlation in the\n                    <jats:italic>MSTO1<\/jats:italic>\n                    gene is rarely studied before 2017, and only 25 mutations have been described in the patients. Here, we reported two siblings with progressive cerebellar atrophy and ataxia in a Chinese family. Two compound heterozygous mutations in the\n                    <jats:italic>MSTO1<\/jats:italic>\n                    gene, a novel missense mutation c.571C&amp;gt;T (p.Arg191Trp), and a reported frameshift mutation c.1259delG (p.Gly420ValfsTer2) were identified in the patients by whole exome sequencing.\n                    <jats:italic>in vitro<\/jats:italic>\n                    experiments found both of the mutations lead to reduced protein abundance and link to decreased mtDNA content. Except for ataxia and delayed motor, both of the siblings also have low birth weights, learning difficulties, and dysarthria. Our report enriched the genotype and phenotype spectrums of the\n                    <jats:italic>MSTO1<\/jats:italic>\n                    -related disorder and supported the recessive inheritance of the disease.\n                  <\/jats:p>","DOI":"10.3389\/fneur.2022.988519","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:22:17Z","timestamp":1668644537000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia"],"prefix":"10.3389","volume":"13","author":[{"given":"Jia","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junfang","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingwu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifeng","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihui","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cailin","family":"Xin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiongfang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1016\/j.yexcr.2007.02.004","article-title":"Human 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microtubules in Drosophila spindle formation","volume":"124","author":"Mottier-Pavie","year":"2011","journal-title":"J Cell Sci"},{"key":"B5","doi-asserted-by":"publisher","first-page":"967","DOI":"10.15252\/emmm.201607058","article-title":"MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans","volume":"9","author":"Gal","year":"2017","journal-title":"EMBO Mol Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1002\/humu.23262","article-title":"Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia","volume":"38","author":"Nasca","year":"2017","journal-title":"Hum Mutat."},{"key":"B7","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1038\/s10038-017-0405-8","article-title":"Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy","volume":"63","author":"Iwama","year":"2018","journal-title":"J Hum Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1016\/j.nmd.2019.03.011","article-title":"A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement","volume":"29","author":"Ardicli","year":"2019","journal-title":"Neuromuscul Disord."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1007\/s00401-019-02059-z","article-title":"MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement","volume":"138","author":"Donkervoort","year":"2019","journal-title":"Acta Neuropathol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"a004309","DOI":"10.1101\/mcs.a004309","article-title":"Novel biallelic variants in MSTO1 associated with mitochondrial myopathy","volume":"5","author":"Schultz-Rogers","year":"2019","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"B11","doi-asserted-by":"publisher","first-page":"103623","DOI":"10.1016\/j.ejmg.2019.01.013","article-title":"Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy","volume":"63","author":"Li","year":"2020","journal-title":"Eur J Med Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1007\/s13760-020-01544-7","article-title":"Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants","volume":"121","author":"Jiao","year":"2021","journal-title":"Acta Neurol Belg"},{"key":"B13","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1038\/s10038-020-00897-4","article-title":"A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy","volume":"66","author":"Nasca","year":"2021","journal-title":"J Hum 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