ArticleJournal of inherited metabolic disease2008
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.American journal of hematology · 2017Trial
- Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.International journal of molecular sciences · 2025Article
- The C. elegans gba-3 gene encodes a glucocerebrosidase that exacerbates α-synuclein-mediated impairments in deletion mutants.Translational neurodegeneration · 2025Article
- Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.Biomolecules · 2024Article
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.International journal of molecular sciences · 2023Article
- The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.Molecular genetics and metabolism reports · 2021Article
- A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact.Hematology. American Society of Hematology. Education Program · 2020Review
- The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.Orphanet journal of rare diseases · 2020Article
- GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.Molecular genetics and metabolism · 2020Review
- Comprehensive clinical, biochemical and genetic screening reveals four distinctMolecular genetics and metabolism reports · 2019Article
- Gaucher Disease in Bone: From Pathophysiology to Practice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Review
- Silent but significant - A synonymous SNV alters prognosis in Pompe disease.EBioMedicine · 2019Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.BMC medical genetics · 2018Article
- Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.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
- The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare environments and concerns.Orphanet journal of rare diseases · 2014Article
- Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Pediatric endocrinology reviews : PER · 2014Review
- Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.Orphanet journal of rare diseases · 2014Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
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Abstract
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood. To characterize a subset of more severely affected N370S homozygotes, we assessed the phenotypes at or near the time of diagnosis of all N370S homozygotes with available data enrolled in the International Collaborative Gaucher Group Gaucher Registry. N370S compound heterozygotes were analyzed for comparison, as they are expected to present with a more severe phenotype. Of 798 N370S homozygotes and 1,278 N370S compound heterozygotes identified, 32% (251/788) and 65% (820/1269), respectively, were diagnosed before age 20 years. At diagnosis, N370S homozygotes as compared to N370S compound heterozygotes had the following clinical characteristics: irreversible skeletal lesions 17% (34/198) for N370S homozygotes versus 26% (76/290) for N370S compound heterozygotes; anaemia 18% (59/327) versus 29% (145/494); thrombocytopenia 52% (170/327) versus 62% (281/453); hepatomegaly 44% (83/190) versus 72% (141/195); splenomegaly 73% (142/194) versus 91% (178/195); and osteopenia or osteoporosis 48.6% (34/70) versus 51% (25/49). Some N370S homozygotes exhibited more severe clinical manifestations: 9% (29/327) had severe thrombocytopenia; 3% (5/190) had severe hepatomegaly; 11% (22/194) had severe splenomegaly; 7% (18/255) reported bone crises; 11% (8/70) had osteoporosis. In conclusion, N370S homozygosity does not consistently confer a mild, adult-onset phenotype. Gaucher disease patients with the N370S/N370S genotype exhibit a high degree of phenotypic heterogeneity and some may be at risk for early disease onset and severe clinical manifestations.
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