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

作者：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; Torun Yasemin Altuner; Bayri Yasar; Sakar Mustafa; Dagcinar Adnan; Ziyal Ibrahim

来源：Journal of Human Genetics, 2015, 60(12): 763-768.

DOI：10.1038/jhg.2015.109

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.

• 出版日期2015-12