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Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene. 2015
Fatih Bayrakli, and
Hatice Gamze Poyrazoglu, and
Sirin Yuksel, and
Cengiz Yakicier, and
Bekir Erguner, and
Mahmut Samil Sagiroglu, and
Betul Yuceturk, and
Bugra Ozer, and
Selim Doganay, and
Bahattin Tanrikulu, and
Askin Seker, and
Fatih Akbulut, and
Ali Ozen, and
Huseyin Per, and
Sefer Kumandas, and
Yasemin Altuner Torun, and
Yasar Bayri, and
Mustafa Sakar, and
Adnan Dagcinar, and
Ibrahim Ziyal
Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.
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.
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Bugra Ozer, and
Selim Doganay, and
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Ali Ozen, and
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