Abstract
The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.
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Acknowledgements
The authors thank Japan Spastic Paraplegia Research Consortium for the genetic analysis of the present patient. This work was supported by Grants-in-Aid from the Research Committee for Ataxic Disease (YT), the Ministry of Health, Labor and Welfare, Japan, and grants for AMED under Grant Numbers JP16kk0205001h0001 (ST) and JP17kk0205001h0002 (ST).
Author contributions
KH and TM: study conceptualization, design, and manuscript preparation. TO, NS, TI, YO, RS, and NT: clinical evaluation and operation, HT, HI, and KK: gene analysis and interpretation of genetic analysis data. ST, MA, and YT: critical revision of the manuscript and study supervision.
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Supplementary data to show the workflow, the causative genes screened in the study, and the variants detected in the workflow
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Miyabayashi, T., Ochiai, T., Suzuki, N. et al. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. J Hum Genet 64, 171–176 (2019). https://doi.org/10.1038/s10038-018-0538-4
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DOI: https://doi.org/10.1038/s10038-018-0538-4
