Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

Background: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or a...

Full description

Bibliographic Details
Main Authors: Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Johannes R Lemke, Steffen Syrbe, Skadi Beblo
Format: Article
Language:English
Published: Elsevier 2017-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Multigene panel next generation sequencing
Lysosomal storage disease
NEU1 gene
Sialidosis
c.699C>A (p.S233R)
c.803A>G (p.Y268C)
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300738

Internet

http://www.sciencedirect.com/science/article/pii/S2214426916300738

Similar Items