Abstract
Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
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Acknowledgements
We thank the families who cooperated with evaluation of their children and consented for participation in this study.
Funding
This work was supported by Department of Health Research funded the project titled “Clinical and molecular characterization of leukodystrophies in Indian children” (V.25011/379/2015-GIA/HR) and National Institutes of Health funded project, ‘Genetic Diagnosis of Heritable Neurodevelopmental Disorders in India: Investigating the Use of Whole Exome Sequencing and Genetic Counseling to Address the High Burden of Neurodevelopmental Disorders’(1R21NS094047-01).
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KMG and AS evaluated the patients, conceived the idea of the manuscript and planned the experiments. MH performed experiments and drafted the manuscript. SN evaluated the patients and contributed to the clinical reports. SB and KMG supervised the entire work. All authors read and approved the final manuscript.
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Hebbar, M., Shukla, A., Nampoothiri, S. et al. Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. J Hum Genet 64, 17–21 (2019). https://doi.org/10.1038/s10038-018-0523-y
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DOI: https://doi.org/10.1038/s10038-018-0523-y
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