1. Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
- Author
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Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, and Kingsmore S
- Subjects
- Carrier Proteins metabolism, Cholestasis complications, Cholestasis genetics, Cholesterol genetics, Cholesterol metabolism, Genome genetics, Homozygote, Humans, Infant, Intracellular Signaling Peptides and Proteins, Liver Diseases complications, Male, Membrane Glycoproteins metabolism, Mutation, Niemann-Pick C1 Protein, Niemann-Pick Disease, Type C complications, Niemann-Pick Disease, Type C metabolism, Niemann-Pick Diseases complications, Niemann-Pick Diseases genetics, Sequence Analysis, DNA methods, Carrier Proteins genetics, Membrane Glycoproteins genetics, Niemann-Pick Disease, Type C diagnosis, Niemann-Pick Disease, Type C genetics
- Abstract
Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1 Although characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction because of intrahepatocyte lipid accumulation. We report a 7-wk-old infant who was admitted with neonatal cholestasis, and who was diagnosed with a novel homozygous stop-gain variant in NPC1 by rapid whole-genome sequencing (WGS). WGS results were obtained 16 d before return of the standard clinical genetic test results and prompted initiation of targeted therapy., (© 2017 Hildreth et al.; Published by Cold Spring Harbor Laboratory Press.)
- Published
- 2017
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