Bayrakli, FatihPoyrazoglu, Hatice GamzeYuksel, SirinYakicier, CengizErguner, BekirSagiroglu, Mahmut SamilYuceturk, BetulOzer, BugraDoganay, SelimTanrikulu, BahattinSeker, AskinAkbulut, FatihOzen, AliPer, HuseyinKumandas, SeferTorun, Yasemin AltunerBayri, YasarSakar, MustafaDagcinar, AdnanZiyal, Ibrahim2023-02-212023-02-212015-01-0110.1038/jhg.2015.109https://hdl.handle.net/11443/2571http://dx.doi.org/10.1038/jhg.2015.109We 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.ArticleWOS:000366730700006