A de novo dominant mutation in KIF1A associated with axonal neuropathy,spasticity and autism spectrum disorder |
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| Authors: | Pedro J Tomaselli Alexander M Rossor Alejandro Horga Matilde Laura Julian C Blake Henry Houlden Mary M Reilly |
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| Institution: | 1. MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK;2. Department of Neuromuscular Disorders, Clinical Hospital of Ribeir?o Preto, University of S?o Paulo, Ribeir?o Preto, SP, Brazil;3. Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK |
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| Abstract: | Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder (ASD), spastic paraplegia and axonal neuropathy. The presence of ASD distinguishes this case from previously reported patients with de novo dominant mutations in KIF1A. |
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| Keywords: | autism spectrum disorder KIF1A Kinesin family member 1A gene next‐generation sequencing peripheral neuropathy |
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