title: Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
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.
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayrakli
authors.affiliation: Department of Child Neurology, Firat University School of Medicine, Elazig, Turkey.
authors.forename: Hatice Gamze
authors.initials: HG
authors.lastname: Poyrazoglu
authors.affiliation: Department of Medical Biology, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Sirin
authors.initials: S
authors.lastname: Yuksel
authors.affiliation: Department of Medical Biology, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakicier
authors.affiliation: Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, The Scientific and Technological Research Council of Turkey (TUBITAK), Kocaeli, Turkey.|Department of Molecular Biology Genetics and Bioengineering, Sabanci University Faculty of Engineering and Natural Sciences, Istanbul, Turkey.
authors.forename: Bekir
authors.initials: B
authors.lastname: Erguner
authors.affiliation: Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, The Scientific and Technological Research Council of Turkey (TUBITAK), Kocaeli, Turkey.
authors.forename: Mahmut Samil
authors.initials: MS
authors.lastname: Sagiroglu
authors.affiliation: Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, The Scientific and Technological Research Council of Turkey (TUBITAK), Kocaeli, Turkey.
authors.forename: Betul
authors.initials: B
authors.lastname: Yuceturk
authors.affiliation: Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, The Scientific and Technological Research Council of Turkey (TUBITAK), Kocaeli, Turkey.|Department of Molecular Biology Genetics and Bioengineering, Sabanci University Faculty of Engineering and Natural Sciences, Istanbul, Turkey.
authors.forename: Bugra
authors.initials: B
authors.lastname: Ozer
authors.affiliation: Department of Pediatric Radiology, Erciyes University Children's Hospital, Kayseri, Turkey.
authors.forename: Selim
authors.initials: S
authors.lastname: Doganay
authors.affiliation: Neurosurgery Clinic, Marmara University Pendik Research and Training Hospital, Istanbul, Turkey.
authors.forename: Bahattin
authors.initials: B
authors.lastname: Tanrikulu
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Askin
authors.initials: A
authors.lastname: Seker
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Akbulut
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Ozen
authors.affiliation: Department of Child Neurology, Erciyes University School of Medicine, Kayseri, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Per
authors.affiliation: Department of Child Neurology, Erciyes University School of Medicine, Kayseri, Turkey.
authors.forename: Sefer
authors.initials: S
authors.lastname: Kumandas
authors.affiliation: Child Health and Diseases Clinic, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Altuner Torun
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Yasar
authors.initials: Y
authors.lastname: Bayri
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sakar
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Adnan
authors.initials: A
authors.lastname: Dagcinar
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.|Institute of Neurological Sciences, Marmara University, Istanbul, Turkey.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Ziyal
mesh_terms: D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D059472:Exome; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D016547:Kinesins; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D019655:Quantitative Trait, Heritable; D017384:Sequence Deletion
chemical_list: D018388:Codon, Terminator; D008869:Microtubule-Associated Proteins; D016547:Kinesins