High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Christopher A Wassif Joanna L CrossJames IbenLuis Sanchez-PulidoAntony CougnouxFrances M PlattDaniel S OryChris P PontingJoan E Bailey-WilsonBarbara B BieseckerForbes D Porter

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

We determined a combined incidence of classical NPC of 1/89,229, or 1.12 affected patients per 100,000 conceptions, but predict incomplete ascertainment of a late-onset phenotype of NPC1. This finding strongly supports the need for increased screening of potential patients.

Keyphrases

late onset
end stage renal disease
early onset
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
risk factors
patient reported outcomes
skeletal muscle
machine learning
insulin resistance
big data
risk assessment
artificial intelligence