Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.
Siren BerlandBjørn Ivar HaukanesPetur Benedikt JuliussonGunnar HougePublished in: Journal of medical genetics (2020)
Three different cell-type-dependent RNA products can explain the co-occurrence of both BWS and IMAGe features in the boy. Possibly, brain expression of hybrid isoform D-A/B is the cause of developmental delay and microcephaly, a phenotypic feature not previously reported in CDKN1C patients.
Keyphrases
- deep learning
- end stage renal disease
- zika virus
- ejection fraction
- machine learning
- prognostic factors
- intellectual disability
- resting state
- white matter
- single cell
- patient reported outcomes
- binding protein
- rna seq
- multiple sclerosis
- functional connectivity
- brain injury
- cerebral ischemia
- long non coding rna
- subarachnoid hemorrhage