A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
نویسندگان
چکیده
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.
منابع مشابه
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
OBJECTIVE To determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children. METHODS Clinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. Six patients were identified with de novo missense mutations in the kinesi...
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