Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene

ObjectiveTo describe the clinical presentation and novel mutation in the ganglioside-beta-galactosidase gene (GLB1) gene in a Chinese family with GM1 gangliosidosis.MethodsWe collected clinical data from a Chinese family with GM1 gangliosidosis, and performed whole exon sequencing (WES) of the proba...

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Bibliographic Details
Main Authors: Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
GM1 gangliosidosis
GLB1 gene
β-galactosidase
heterozygous mutation
whole exon sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1507098/full
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