Journal
COLD SPRING HARBOR MOLECULAR CASE STUDIES
Volume 2, Issue 5, Pages -Publisher
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/mcs.a001008
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Funding
- National Institutes of Health (NIH) [U54 HG006504]
- Manton Center for Orphan Disease Research Gene Discovery Core
- Tommy Fuss Fund
- GETTYLAB
- Research Connection at Boston Children's Hospital
- Boston Children's Hospital Intellectual and Developmental Disabilities Research Center - NIH [P30 HD18655]
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We describe a child with onset of command auditory hallucinations and behavioral regression at 6 yr of age in the context of longer standing selective mutism, aggression, and mild motor delays. His genetic evaluation included chromosomal microarray analysis and whole-exome sequencing. Sequencing revealed a previously unreported heterozygous de novo mutation c.385G>A in ATP1A3, predicted to result in a p.V129M amino acid change. This gene codes for a neuron-specific isoform of the catalytic a-subunit of the ATP-dependent transmembrane sodium-potassium pump. Heterozygous mutations in this gene have been reported as causing both sporadic and inherited forms of alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism. We discuss the literature on phenotypes associated with known variants in ATP1A3, examine past functional studies of the role of ATP1A3 in neuronal function, and describe a novel clinical presentation associated with mutation of this gene.
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