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

• Main Authors: Seco, C.Z, Castells-Noba A., Joo, S.-H, 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., Tranebjarg, L., Van Wijk, E., Scheffer-De Gooyert, J.M., Siddique, S., Baets, J., De Jonghe, P., Kazmi, S.A.R., Sadananthan, S.A, Van De Warrenburg, B.P., Khor, C.C, Göpfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S.
• Other Authors: MEDICINE
• Format: Article
• Published: 2020
• Subjects: aspartate aminotransferase; creatine kinase; fitm2 protein; lactate dehydrogenase; protein; unclassified drug; Drosophila protein; fat droplet; FIT2 protein, human; membrane protein; adolescent; adult; Article; child; clinical article; clinical examination; clinical observation; Drosophila melanogaster; dystonia; fat content; female; fruit fly model; gene mutation; genetic counseling; genetic variation; hearing impairment; homozygosity; human; ichthyosis; lipid storage; loss of function mutation; male; nonsense mutation; Pakistani; perception deafness; phenotype; priority journal; protein expression; pure tone audiometry; sensory neuropathy; tympanometry; whole exome sequencing; animal; blood; complication; deafblindness; disease model; gene expression regulation; gene silencing; genetics; HEK293 cell line; homozygote; intellectual impairment; liver; locomotion; metabolism; motor activity; mutation; nucleotide sequence; obesity; optic nerve atrophy; pathology; pathophysiology; pedigree; sensory nerve cell; stop codon; young adult; Adiposity; Animals; Audiometry, Pure-Tone; Base Sequence; Child; Codon, Nonsense; Deaf-Blind Disorders; Disease Models, Animal; Drosophila Proteins; Dystonia; Female; Gene Expression Regulation; Gene Knockdown Techniques; Hearing Loss; HEK293 Cells; Homozygote; Humans; Ichthyosis; Intellectual Disability; Lipid Droplets; Liver; Locomotion; Male; Membrane Proteins; Motor Activity; Mutation; Optic Atrophy; Pedigree; Sensory Receptor Cells; Whole Exome Sequencing; Young Adult
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/173796
• Institution: National University of Singapore

10.1242/dmm.026476