ArticleJournal of genetics2017
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
Article in Journal of genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.Human genomics · 2026Pooled it
- Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.Neurogenetics · 2025Review
- Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.Molecular and cellular pediatrics · 2025Article
- Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370SInternational journal of molecular sciences · 2023Article
- Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.International journal of molecular and cellular medicine · 2023Article
- Glucocerebrosidase mutations and Parkinson disease.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- A rare homozygous p.Arg87Trp variant of theClinical case reports · 2022Article
- Gaucher's Disease in an Adult Female: A Rare Entity.Cureus · 2021Article
- Genetic characterization of the Albanian Gaucher disease patient population.JIMD reports · 2021Article
- Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.Iranian journal of child neurology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD), the most frequent lysosomal storage disease, is caused by heterogeneous mutations in the locus coding for glucocerebrosidase (GBA). It is an autosomal recessive disorder with different phenotypes of which the most frequent is the nonneuronopathic or type 1, prevalent worldwide. To date, more than 430 mutations have been described, but their frequency distribution varies in different populations with four, N370S, L444P, IVS2 + 1G > A and 84insG, being the most frequent ones. In Venezuela, 20 unrelated index cases with GD type I were assessed for GBA mutation detection and for their in-phase haplotype identification, to gather genetic epidemiological data on the disease in the country and of its eventual ethnic origin. Ten missense mutations and two complex alleles were identified. The most frequent were N370S (42.5%), L444P (20%), IVS2+1G > A (10%) and R48W (5%); mutations R120W, P245H, H311R, R496H, W36X and R433G which were carried by a single chromosome each one. Three geographical foci were identified, displaying mutation heterogeneity. N370S had multiple genetic origins, different from the Ashkenazi's; a single common remote ancestor for this mutation in the country was dismissed, according to the haplotype analysis. All mutations have a likely European Caucasoid descent.
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