A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Cold Spring Harb Mol Case Stud
; 2(5): a001008, 2016 Sep.
Article
in En
| MEDLINE
| ID: mdl-27626066
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Cold Spring Harb Mol Case Stud
Year:
2016
Document type:
Article