Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume 22, Issue 4, Pages 460-463Publisher
WILEY
DOI: 10.1111/jns.12235
Keywords
autism spectrum disorder; KIF1A; Kinesin family member 1A gene; next-generation sequencing; peripheral neuropathy
Categories
Funding
- Medical Research Council (MRC)
- MRC Centre grant [G0601943]
- National Institutes of Neurological Diseases and Stroke
- office of Rare Diseases [U54NS065712]
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London
- Brazilian National Council for Scientific and Technological Development (CNPq)
- Wellcome Trust [110043/Z/15/Z]
- Wellcome Trust [110043/Z/15/Z] Funding Source: Wellcome Trust
- Medical Research Council [G0601943] Funding Source: researchfish
- Muscular Dystrophy UK [16GRO-PS36-0055] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0515-10082] Funding Source: researchfish
- Wellcome Trust [110043/Z/15/Z] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
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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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