KIF1A Hereditary Spastic Paraparesis

The study involves a single consanguineous Palestinian family with Hereditary Spastic Paraparesis (HSP). The affected individuals suffer from spasticity of the lower limbs and abnormal gait. Using exome sequencing and homozygosity mapping, our analysis implicated the causative mutation in the motor domain of KIF1A, a gene that functions in anterograde axonal transportation.]]>
The participants are part of a single family with HSP. The mother and the father are healthy and the two children are affected. We submit the exome sequencing of the father, mother, and one child, and the whole genome-genotyping of the two children.]]>

本研究纳入了一个存在近亲婚配的巴勒斯坦遗传性痉挛性截瘫（Hereditary Spastic Paraparesis, HSP）家系。受累个体表现为下肢痉挛与步态异常。本研究通过外显子测序与纯合性定位分析，将致病突变定位至KIF1A基因的运动结构域——该基因的功能为介导顺向轴突运输。
本研究的受试者均来自该HSP家系。父母表型健康，两名子女均为患者。本研究提交了父亲、母亲及一名患儿的外显子测序数据，以及两名患儿的全基因组基因型检测数据。