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


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Bayrakli F., Poyrazoglu H. G. , Yuksel S., Yakicier C., ERGUNER B., SAGIROGLU M. S. , ...Daha Fazla

JOURNAL OF HUMAN GENETICS, cilt.60, ss.763-768, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 60 Konu: 12
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1038/jhg.2015.109
  • Dergi Adı: JOURNAL OF HUMAN GENETICS
  • Sayfa Sayıları: ss.763-768

Özet

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.