Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Gianina RavenscroftS PannellG O'GradyR OngH C EeF FaizL MarnsH GoelP KumarasingheE SollisP SivadoraiM WilsonA MagoffinS NightingaleM-L FreckmannE P KirkR SachdevD A LembergM B DelatyckiM A KammC BasnayakeP J LamontD J AmorK JonesJ SchilperoortM R DavisN G LaingPublished in: Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society (2018)
ACTG2 mutations represent a significant underlying cause of primary CIPO with visceral myopathy and associated phenotypes in Australasian patients. Thus, ACTG2 sequencing should be considered in cases presenting with hypoperistalsis phenotypes with suspected visceral myopathy. It is likely that variants in other genes encoding enteric smooth muscle contractile proteins will contribute further to the genetic heterogeneity of hypoperistalsis phenotypes.
Keyphrases
- smooth muscle
- copy number
- end stage renal disease
- single cell
- late onset
- genome wide
- insulin resistance
- chronic kidney disease
- ejection fraction
- newly diagnosed
- prognostic factors
- pulmonary embolism
- type diabetes
- dna methylation
- adipose tissue
- muscular dystrophy
- patient reported outcomes
- transcription factor
- early onset
- patient reported
- drug induced
- bioinformatics analysis