De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

  title={De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance},
  author={Chihiro Ohba and Kazuhiro Haginoya and Hitoshi Osaka and Kazuo Kubota and Akihiko Ishiyama and Takuya Hiraide and Hirofumi Komaki and Masayuki Sasaki and Satoko Miyatake and Mitsuko Nakashima and Yoshinori Tsurusaki and Noriko Miyake and Fumiaki Tanaka and Hirotomo Saitsu and Naomichi Matsumoto},
  journal={Journal of Human Genetics},
Recently, de novo KIF1A mutations were identified in patients with intellectual disability, spasticity and cerebellar atrophy and/or optic nerve atrophy. In this study, we analyzed a total of 62 families, including 68 patients with genetically unsolved childhood cerebellar atrophy, by whole-exome sequencing (WES). We identified five de novo missense KIF1A mutations, including only one previously reported mutation (p.Arg316Trp). All the mutations are located in the motor domain of KIF1A. In all… CONTINUE READING
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