De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

@article{Langlois2016DeND,
  title={De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome},
  author={Sylvie Langlois and Maja Tarailo-Graovac and Bryan Sayson and Britt I Dr{\"o}gem{\"o}ller and Anne Swenerton and Colin Jd Ross and Wyeth W. Wasserman and Clara D. M. van Karnebeek},
  journal={European Journal of Human Genetics},
  year={2016},
  volume={24},
  pages={949-953}
}
PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroimaging. We describe the results of a genomic study of a girl with PEHO syndrome and review the literature on cases with a disease-causing variant in the same gene. Exome sequencing of the index and… CONTINUE READING
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