Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

Abstract Background Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2‐ganglioside in lysosomes, decreased levels of HEXAcauses an accumulation of the protei...

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Bibliographic Details
Main Authors: Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cherry‐red spot
GM2‐gangliosidosis
hexosaminidase A deficiency
neurodevelopmental regression
Tay–Sachs disease
Online Access:https://doi.org/10.1002/mgg3.1677

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