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By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G&amp;gt;T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA-interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained in the potential impact of genetic variation in FITM2.<\/jats:p>","DOI":"10.1242\/dmm.026476","type":"journal-article","created":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T16:05:08Z","timestamp":1483977908000},"source":"Crossref","is-referenced-by-count":21,"title":["A homozygous<i>FITM2<\/i>mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy"],"prefix":"10.1242","author":[{"given":"Celia Zazo","family":"Seco","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Hearing & Genes, Radboud university medical center, Nijmegen, 6525GA, the Netherlands"},{"name":"The Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, 6525GA, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Castells-Nobau","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525GA, The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, 6525GA, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seol-hee","family":"Joo","sequence":"additional","affiliation":[{"name":"Department of Cellular Neurobiology, University of G\u00f6ttingen, G\u00f6ttingen, 37077, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margit","family":"Schraders","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Hearing & Genes, Radboud university medical center, Nijmegen, 6525GA, the Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, 6525GA, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia Nee","family":"Foo","sequence":"additional","affiliation":[{"name":"Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"van der Voet","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525GA, The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, 6525GA, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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