New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Elena Martín-HernándezMaría Elena Rodríguez-GarcíaAna CamachoAntoni Matilla-DueñasMaría Teresa García-SilvaPilar Quijada-FraileMarc Corral-JuanPilar Tejada-PalaciosRogelio Simón de Las HerasJoaquín ArenasMiguel A MartínFrancisco Martínez-AzorínPublished in: Neurogenetics (2016)
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.
Keyphrases
- intellectual disability
- early onset
- autism spectrum disorder
- genome wide
- case report
- copy number
- end stage renal disease
- optical coherence tomography
- ejection fraction
- chronic kidney disease
- newly diagnosed
- photodynamic therapy
- optic nerve
- electronic health record
- big data
- drug induced
- machine learning
- transcription factor
- data analysis
- patient reported outcomes
- genome wide analysis