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Article

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development - 1 Oct 2026

Ou Yang-Mei, He Ming-Feng, Yan Fu-Jiang, Teng Tian-Xiang, Fan Zhi-Cong, Zhou Qing, Li Hua, Hu Xiang-Shu, Peng Kai, Huang Chun-Xia, Zhang Yu-Sheng

Abstract excerpt

BACKGROUND: Variants in GBA1 are associated with neurodegenerative disease. This study aimed to explore pathogenic GBA1 variants. METHODS: Four patients with progressive myoclonic epilepsy (PME) and extremely low β-glucosidase levels were recruited. Whole-exome sequencing and long-range PCR were performed to identify GBA1 variants. Bioinformatic analyses were used to predict the impact of the identified variants....

Read the complete abstract on PubMed

Topics

Humans
Gaucher Disease
Female
Glucosylceramidase
Male
Genetic Association Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Brain

beta-Glucosidase

RNA Splice Sites

Child

Myoclonic Epilepsies, Progressive

Child, Preschool

Mutation

Adolescent

Phenotype

Source

Identifiers

PMID: 42632194
DOI: 10.1016/j.braindev.2026.104584

Genes

GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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