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 com...

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Bibliographic Details
Published in:Journal of human genetics 2015-12, Vol.60 (12), p.763-768
Main Authors: Bayrakli, 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, Altuner Torun, Yasemin, Bayri, Yasar, Sakar, Mustafa, Dagcinar, Adnan, Ziyal, Ibrahim
Format: Article
Language:English
Subjects:
Base Sequence
Children & youth
Chromosome 6
Codon, Terminator - genetics
Deoxyribonucleic acid
Disease
DNA
Exome
Exons
Families & family life
Female
Gene mapping
Genes
Genes, Recessive
Genetic Diseases, Inborn - genetics
Genetic testing
Genomes
Genomics
Hereditary spastic paraplegia
Hospitals
Humans
Kinesin
Male
Medicine
Microtubule-Associated Proteins - genetics
mRNA
Mutation
Neurology
Neurosurgery
NMR
Nuclear magnetic resonance
Paralysis
Paraplegia - genetics
Phenotyping
Proteins
Quantitative Trait, Heritable
Sequence analysis
Sequence Deletion
Stop codon
Walking
Websites
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Description
Summary: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.
ISSN:1434-5161
1435-232X
DOI:10.1038/jhg.2015.109