Published January 1, 2015 | Version v1
Journal article Open

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

Creators

  • 1. Firat Univ, Sch Med, Dept Child Neurol, TR-23169 Elazig, Turkey
  • 2. Acibadem Univ, Sch Med, Dept Med Biol, Istanbul, Turkey
  • 3. Sci & Technol Res Council Turkey TUBITAK, BILGEM, Adv Genom & Bioinformat Res Ctr IGBAM, Kocaeli, Turkey
  • 4. Erciyes Univ, Childrens Hosp, Dept Pediat Radiol, Kayseri, Turkey
  • 5. Marmara Univ, Pendik Res & Training Hosp, Neurosurg Clin, TR-34720 Istanbul, Turkey
  • 6. Erciyes Univ, Sch Med, Dept Child Neurol, Kayseri, Turkey
  • 7. Kayseri Educ & Res Hosp, Child Hlth & Dis Clin, Kayseri, Turkey

Description

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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