A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjaerg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan BaetsPeter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Goepfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)105-118
Number of pages14
JournalDisease Models & Mechanisms
Volume10
Issue number2
DOIs
Publication statusPublished - 1 Feb 2017

Keywords

  • FITM2
  • Lipid droplets
  • Drosophila
  • Hearing impairment
  • Motor development
  • Dystonia
  • ENDOPLASMIC-RETICULUM STRESS
  • LIPID DROPLET
  • FAT STORAGE
  • TRANSMEMBRANE PROTEIN-2
  • GENE-EXPRESSION
  • DROSOPHILA
  • METABOLISM
  • MORPHOLOGY
  • DISEASE
  • CELLS

Cite this

Seco, C. Z., Castells-Nobau, A., Joo, S., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjaerg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., ... Siddiqi, S. (2017). A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Disease Models & Mechanisms, 10(2), 105-118. https://doi.org/10.1242/dmm.026476