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

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dc.contributor.authorDAĞÇINAR, ADNAN
dc.contributor.authorsBayrakli, Fatih; Poyrazoglu, Hatice Gamze; Yuksel, Sirin; Yakicier, Cengiz; Erguner, Bekir; Sagiroglu, Mahmut Samil; Yuceturk, Betul; Ozer, Bugra; Doganay, Selim; Tanrikulu, Bahattin; Seker, Askin; Akbulut, Fatih; Ozen, Ali; Per, Huseyin; Kumandas, Sefer; Torun, Yasemin Altuner; Bayri, Yasar; Sakar, Mustafa; Dagcinar, Adnan; Ziyal, Ibrahim
dc.date.accessioned2022-03-14T11:06:37Z
dc.date.available2022-03-14T11:06:37Z
dc.date.issued2015-12
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.identifier.doi10.1038/jhg.2015.109
dc.identifier.eissn1435-232X
dc.identifier.issn1434-5161
dc.identifier.pubmed26423925
dc.identifier.urihttps://hdl.handle.net/11424/245895
dc.identifier.wosWOS:000366730700006
dc.language.isoeng
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofJOURNAL OF HUMAN GENETICS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectSEQUENCING DATA
dc.subjectDROSOPHILA
dc.titleHereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
dc.typearticle
dspace.entity.typePublication
local.avesis.id80b168ef-563a-4073-bc93-48cff5e92621
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages6
oaire.citation.endPage768
oaire.citation.issue12
oaire.citation.startPage763
oaire.citation.titleJOURNAL OF HUMAN GENETICS
oaire.citation.volume60
relation.isAuthorOfPublication53e7d31c-a13c-42de-bbf1-385a42bc6589
relation.isAuthorOfPublication.latestForDiscovery53e7d31c-a13c-42de-bbf1-385a42bc6589

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