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TOMM70 is a receptor that assists mainly in mitochondrial protein import. Here, we report two individuals with de novo variants in the C-terminal region of TOMM70. While both individuals exhibited shared symptoms including hypotonia, hyper-reflexia, ataxia, dystonia and significant white matter abnormalities, there were differences between the two individuals, most prominently the age of symptom onset. Both individuals were undiagnosed despite extensive genetics workups. Individual 1 was found to have a p.Thr607Ile variant while Individual 2 was found to have a p.Ile554Phe variant in TOMM70. To functionally assess both TOMM70 variants, we replaced the Drosophila Tom70 coding region with a Kozak-mini-GAL4 transgene using CRISPR-Cas9. Homozygous mutant animals die as pupae, but lethality is rescued by the mini-GAL4-driven expression of human UAS-TOMM70 cDNA. Both modeled variants lead to significantly less rescue indicating that they are loss-of-function alleles. Similarly, RNAi-mediated knockdown of Tom70 in the developing eye causes roughening and synaptic transmission defect, common findings in neurodegenerative and mitochondrial disorders. These phenotypes were rescued by the reference, but not the variants, of TOMM70. Altogether, our data indicate that de novo loss-of-function variants in TOMM70 result in variable white matter disease and neurological phenotypes in affected individuals.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa081","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T19:14:05Z","timestamp":1588101245000},"page":"1568-1579","source":"Crossref","is-referenced-by-count":41,"title":["De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment"],"prefix":"10.1093","volume":"29","author":[{"given":"Debdeep","family":"Dutta","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren C","family":"Briere","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguz","family":"Kanca","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul C","family":"Marcogliese","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A","family":"Walker","sequence":"first","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances A","family":"High","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline","family":"Vanderver","sequence":"first","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Krier","sequence":"first","affiliation":[{"name":"Brigham Genomic Medicine, Brigham and Women\u2019s Hospital, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikkola","family":"Carmichael","sequence":"first","affiliation":[{"name":"Brigham Genomic Medicine, Brigham and Women\u2019s Hospital, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Callahan","sequence":"first","affiliation":[{"name":"Department of Medicine, Brigham and Women\u2019s Hospital, Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan J","family":"Taft","sequence":"first","affiliation":[{"name":"Illumina, Inc., San Diego, CA 92121, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cas","family":"Simons","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute, The Royal Children\u2019s Hospital, Parkville, Victoria 3052, Australia"},{"name":"Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4784-7423","authenticated-orcid":false,"given":"Guy","family":"Helman","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute, The Royal Children\u2019s Hospital, Parkville, Victoria 3052, Australia"},{"name":"Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Undiagnosed Diseases","family":"Network","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F","family":"Wangler","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030, USA"},{"name":"Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2172-8036","authenticated-orcid":false,"given":"Shinya","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030, USA"},{"name":"Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Sweetser","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo J","family":"Bellen","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030, USA"},{"name":"Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, 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