Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene


BAYRAKLI F., POYRAZOĞLU H. G. , Yuksel Ş. , Yakicier C. , Erguner B., Sagiroglu M. S. , ...More

JOURNAL OF HUMAN GENETICS, vol.60, no.12, pp.763-768, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 60 Issue: 12
  • Publication Date: 2015
  • Doi Number: 10.1038/jhg.2015.109
  • Title of Journal : JOURNAL OF HUMAN GENETICS
  • Page Numbers: pp.763-768

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.