ArticleJournal of inherited metabolic disease2004
Gaucher disease: variability in phenotype among siblings.
Article in Journal of inherited metabolic disease, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 43 citations in OpenAlex.
- Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.International journal of neonatal screening · 2025Article
- Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.Annals of hematology · 2024Article
- Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).Orphanet journal of rare diseases · 2015Article
- Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.Critical reviews in oncogenesis · 2013Review
- Article
- Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.American journal of hematology · 2012Article
- Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.Frontiers in neurology · 2012Article
- Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes.International medical case reports journal · 2011Article
- A reappraisal of Gaucher disease-diagnosis and disease management algorithms.American journal of hematology · 2011Article
- Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Disease severity in sibling pairs with type 1 Gaucher disease.Journal of inherited metabolic disease · 2010Article
- Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.Chembiochem : a European journal of chemical biology · 2008Article
- Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.Journal of inherited metabolic disease · 2008Review
- Gaucher disease in Syrian children: common mutations identification, and clinical futures.Annals of Saudi medicineArticle
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although many mutations of the GBA gene have been described as causing Gaucher disease, there is generally poor correlation between genotype and phenotype, with a few exceptions. However, most previous reports of genotype-phenotype correlation have involved unrelated individuals, who, even if they share the same mutations, are not as genetically close as siblings. We have studied 24 groups (mostly pairs) of Canadian siblings with type I (non-neuronopathic) Gaucher disease. Since most Canadian provinces have adopted similar criteria for instituting enzyme replacement therapy (ERT), the age at which ERT is begun can serve as a rough surrogate for disease severity, and concordance (or lack of concordance) can be examined between siblings. In 14 of the 24 sibling families, there was sibling concordance: either both siblings were not on ERT, or both were on ERT and had begun at roughly the same age. In these families, there was also much similarity in the clinical features of the disease between siblings. In the other 10 families there was lack of sibling concordance, with only one sibling receiving ERT (or, in one family with three affected siblings, two of three on ERT). In these families, there was also much discrepancy between siblings in the clinical features (as might be expected in a setting where the guidelines for starting ERT are relatively uniform). Possible reasons for the discordances between siblings include macro-environmental and microenvironmental differences. The latter may include micro-environments at the level of the cell (e.g. lysosomal pH, alternative substrates) or at the level of the chromosome (contiguous genes, modifier genes, neutral polymorphisms in GBA).
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