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

dc.contributor.authorBayrakli, Fatih
dc.contributor.authorPoyrazoglu, Hatice Gamze
dc.contributor.authorYuksel, Sirin
dc.contributor.authorYakicier, Cengiz
dc.contributor.authorErguner, Bekir
dc.contributor.authorSagiroglu, Mahmut Samil
dc.contributor.authorYuceturk, Betul
dc.contributor.authorOzer, Bugra
dc.contributor.authorDoganay, Selim
dc.contributor.authorTanrikulu, Bahattin
dc.contributor.authorSeker, Askin
dc.contributor.authorAkbulut, Fatih
dc.contributor.authorOzen, Ali
dc.contributor.authorPer, Huseyin
dc.contributor.authorKumandas, Sefer
dc.contributor.authorTorun, Yasemin Altuner
dc.contributor.authorBayri, Yasar
dc.contributor.authorSakar, Mustafa
dc.contributor.authorDagcinar, Adnan
dc.contributor.authorZiyal, Ibrahim
dc.date.accessioned2023-02-21T12:40:02Z
dc.date.available2023-02-21T12:40:02Z
dc.date.issued2015-01-01
dc.description.abstractWe 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.
dc.description.issue12
dc.description.issueDEC
dc.description.pages763-768
dc.description.volume60
dc.identifier.doi10.1038/jhg.2015.109
dc.identifier.urihttps://hdl.handle.net/11443/2571
dc.identifier.urihttp://dx.doi.org/10.1038/jhg.2015.109
dc.identifier.wosWOS:000366730700006
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofJOURNAL OF HUMAN GENETICS
dc.titleHereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
dc.typeArticle

Files

Collections