A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
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Author
Smedemark-Margulies, Niklas
Vargas, Sigella
Tembulkar, Sahil K.
Towne, Meghan C.
Shi, Jiahai
Gonzalez-Cuevas, Elisa
Liu, Kevin X.
Bilguvar, Kaya
Han, Min-Joon
Torres, Alcy
Berry, Gerard T.
Yu, Timothy W.
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https://doi.org/10.1101/mcs.a001008Metadata
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Smedemark-Margulies, N., C. A. Brownstein, S. Vargas, S. K. Tembulkar, M. C. Towne, J. Shi, E. Gonzalez-Cuevas, et al. 2016. “A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.” Cold Spring Harbor Molecular Case Studies 2 (5): a001008. doi:10.1101/mcs.a001008. http://dx.doi.org/10.1101/mcs.a001008.Abstract
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 α-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.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002930/pdf/Terms of Use
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