Abstract
Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10. We report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. We propose that alteration and elongation of the carboxy-terminus of the protein has a dominant-negative effect, causing mitochondrial dysfunction in the setting of an abnormal kinesin “motor.” These results highlight the role of expanded testing and whole-exome sequencing in critically ill infants and emphasize the importance of accurate test interpretation. Ann Neurol 2016;80:633–637.
Original language | English (US) |
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Pages (from-to) | 633-637 |
Number of pages | 5 |
Journal | Annals of neurology |
Volume | 80 |
Issue number | 4 |
DOIs | |
State | Published - Oct 1 2016 |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology