Article

Partial loss of<i>FITM2</i>function causes hereditary spastic paraplegia

2025-01-25

Abstract excerpt

FITM2 encodes fat-storage inducing transmembrane protein 2 (FIT2), a lipid diphosphatase in the ER that cleaves acyl-CoAs and is crucial for ER homeostasis. In humans, homozygous null mutations in FITM2 are associated with a syndrome characterized by deafness and dystonia. Here, we report two families with hereditary spastic paraplegia (HSP) in whom exome sequencing revealed compound heterozygosity for FITM2 mutat...

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Literature Corpus work: f5792af1-fcf5-58e0-9821-43caa27c2493
DOI: 10.1101/2025.01.23.24319660

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