ArticleDisease models & mechanisms2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Article in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Inflammatory cytokines induce new cancer dependencies.Nature genetics · 2026Article
- Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.Cellular and molecular neurobiology · 2026Article
- FITM2-Related Siddiqi Syndrome in Two Iranian Siblings.Clinical case reports · 2025Article
- Essential Biology of Lipid Droplets.Annual review of biochemistry · 2025Review
- FIT2 proteins and lipid droplet emergence, an interplay between phospholipid synthesis, surface tension, and membrane curvature.Frontiers in cell and developmental biology · 2024Review
- The evolving landscape of ER-LD contact sites.Frontiers in cell and developmental biology · 2024Review
- Concept of lipid droplet biogenesis.European journal of cell biology · 2023Review
- Fat storage-inducing transmembrane proteins: beyond mediating lipid droplet formation.Cellular & molecular biology letters · 2022Review
- Downregulation of hepatic lipopolysaccharide binding protein improves lipogenesis-induced liver lipid accumulation.Molecular therapy. Nucleic acids · 2022Article
- A Unique Junctional Interface at Contact Sites Between the Endoplasmic Reticulum and Lipid Droplets.Frontiers in cell and developmental biology · 2021Review
- FIT2 is an acyl-coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis.The Journal of cell biology · 2020Article
- Spatially resolved dendritic integration: towards a functional classification of neurons.PeerJ · 2020Article
- The first case of deafness-dystonia syndrome due to compound heterozygous variants inClinical case reports · 2018Article
- MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.American journal of human genetics · 2018Article
- Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.American journal of human genetics · 2018Article
- Fat storage-inducing transmembrane (FIT or FITM) proteins are related to lipid phosphatase/phosphotransferase enzymes.Microbial cell (Graz, Austria) · 2017Article
Corrections and comments
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Authors and funding
30 authors at 9 institutions in 6 countries.
Funding
Abstract
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>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 into the potential impact of genetic variation in FITM2.
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Registered trials
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