Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
dc.contributor.author | Bayrakli, Fatih | |
dc.contributor.author | Poyrazoglu, Hatice Gamze | |
dc.contributor.author | Yuksel, Sirin | |
dc.contributor.author | Yakicier, Cengiz | |
dc.contributor.author | Erguner, Bekir | |
dc.contributor.author | Sagiroglu, Mahmut Samil | |
dc.contributor.author | Yuceturk, Betul | |
dc.contributor.author | Ozer, Bugra | |
dc.contributor.author | Doganay, Selim | |
dc.contributor.author | Tanrikulu, Bahattin | |
dc.contributor.author | Seker, Askin | |
dc.contributor.author | Akbulut, Fatih | |
dc.contributor.author | Ozen, Ali | |
dc.contributor.author | Per, Huseyin | |
dc.contributor.author | Kumandas, Sefer | |
dc.contributor.author | Torun, Yasemin Altuner | |
dc.contributor.author | Bayri, Yasar | |
dc.contributor.author | Sakar, Mustafa | |
dc.contributor.author | Dagcinar, Adnan | |
dc.contributor.author | Ziyal, Ibrahim | |
dc.date.accessioned | 2023-02-21T12:40:02Z | |
dc.date.available | 2023-02-21T12:40:02Z | |
dc.date.issued | 2015-01-01 | |
dc.description.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. | |
dc.description.issue | 12 | |
dc.description.issue | DEC | |
dc.description.pages | 763-768 | |
dc.description.volume | 60 | |
dc.identifier.doi | 10.1038/jhg.2015.109 | |
dc.identifier.uri | https://hdl.handle.net/11443/2571 | |
dc.identifier.uri | http://dx.doi.org/10.1038/jhg.2015.109 | |
dc.identifier.wos | WOS:000366730700006 | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.relation.ispartof | JOURNAL OF HUMAN GENETICS | |
dc.title | Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene | |
dc.type | Article |