23 research outputs found
Identification of microRNA profile specific to cancer stem-like cells directly isolated from human larynx cancer specimens
S033: The prognostic factors and overview of different scoring systems in Fournier's gangrene: Experience with 39 patients
Vascularized Bone Graft from the Palmar Carpal Artery for Treatment of Scaphoid Nonunion
Inflation-deflation test as a predictor of aditus patency in patients with chronic suppurative otitis media
Role of Heparin on TNF-α and IL-6 Levels in Liver Regeneration after Partial Hepatic Resection
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
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