Rapid whole-genome sequencing identifies a novel homozygous
| Autor: | Amber, Hildreth, Kristen, Wigby, Shimul, Chowdhury, Shareef, Nahas, Jaime, Barea, Paulina, Ordonez, Sergey, Batalov, David, Dimmock, Stephen, Kingsmore |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities foam cells with lamellar inclusion bodies generalized neonatal hypotonia Niemann-Pick C1 Protein hemic and lymphatic diseases Humans abnormal cholesterol homeostasis Niemann-Pick Diseases clinodactyly of the 5th finger Cholestasis Genome Membrane Glycoproteins Liver Diseases Homozygote Intracellular Signaling Peptides and Proteins nutritional and metabolic diseases Infant Niemann-Pick Disease Type C prolonged neonatal jaundice Sequence Analysis DNA Cholesterol Mutation hepatosplenomegaly Carrier Proteins Rapid Communication |
| Zdroj: | Cold Spring Harbor Molecular Case Studies |
| ISSN: | 2373-2873 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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