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.
Cold Spring Harb Mol Case Stud
; 3(5)2017 Sep.
Article
en En
| MEDLINE
| ID: mdl-28550066
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Glicoproteínas de Membrana
/
Proteínas Portadoras
/
Enfermedad de Niemann-Pick Tipo C
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2017
Tipo del documento:
Article
País de afiliación:
Estados Unidos