| Literature DB >> 26423925 |
Fatih Bayrakli1,2, Hatice Gamze Poyrazoglu3, Sirin Yuksel4, Cengiz Yakicier4, Bekir Erguner5,6, Mahmut Samil Sagiroglu5, Betul Yuceturk5, Bugra Ozer5,6, Selim Doganay7, Bahattin Tanrikulu8, Askin Seker1,2, Fatih Akbulut1,2, Ali Ozen1,2, Huseyin Per9, Sefer Kumandas9, Yasemin Altuner Torun10, Yasar Bayri1,2, Mustafa Sakar1,2, Adnan Dagcinar1,2, Ibrahim Ziyal1,2.
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.Entities:
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Year: 2015 PMID： 26423925 DOI： 10.1038/jhg.2015.109
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172