Abstract
We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.
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Acknowledgements
Exome sequencing experiments of this study supported by The Republic of Turkey Ministry of Development Infrastructure Grant (no: 2011K120020) and BILGEM—TUBITAK (The Scientific and Technological Research Council of Turkey) (grant no: T439000)
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Bayrakli, F., Poyrazoglu, H., Yuksel, S. et al. Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene. J Hum Genet 60, 763–768 (2015). https://doi.org/10.1038/jhg.2015.109
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DOI: https://doi.org/10.1038/jhg.2015.109
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