Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value
| العنوان: | Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value |
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| المؤلفون: | Sonja van Weely, Johannes M. F. G. Aerts, Rolf G. Boot, Marri Verhoek, Marcel M.A.M. Mannens, Carla E. M. Hollak, Ben J. H. M. Poorthuis, Wim J. Kleijer, P. Sloof, Ron A. Wevers, Marinus H. J. van Oers |
| المساهمون: | Other departments |
| المصدر: | Human Mutation, 10, 5, pp. 348-358 Human Mutation, 10, 348-358 Human Mutation, 10, pp. 348-358 Human mutation, 10(5), 348-358. Wiley-Liss Inc. |
| بيانات النشر: | Hindawi Limited, 1997. |
| سنة النشر: | 1997 |
| مصطلحات موضوعية: | Genetics, Neuromusculaire en neurometabole ziekten, Disease, Biology, medicine.disease, Glucosylceramidase, Gaucher's disease, Genotype, Immunology, medicine, Allele, Age of onset, Genotyping, Glucocerebrosidase, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical) |
| الوصف: | Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurological involvement. The relative incidence of glucocerebrosidase (GC) mutations has been studied extensively for Jewish but not for non-Jewish Caucasian patient populations. The present survey on mutant GC genotypes prevalent in Gaucher disease in The Netherlands was taken of 72 patients from different genetic backgrounds. This number is more than half the total number of affected Gaucher patients to be expected on the basis of the incidence of the disorder in this country. Analysis of nine GC mutations led to the identification of 74% of the mutant GC alleles in patients from 44 unrelated Dutch families (i.e., families that have lived in The Netherlands for at least several generations) and of 44% of the mutant GC alleles in patients from nine unrelated families that recently immigrated from both European and non-European countries. The N370S (cDNA 1226G) GC mutation proved to occur most frequently (41%) in the unrelated Dutch patients and less frequently (6%) in the unrelated immigrant patients and was always associated with the nonneuronopathic (Type 1) form of the disease. Apart from the association of the N370S mutation with Type 1 Gaucher disease, the prognostic value of GC genotyping was limited, since a particular GC genotype did not correlate closely to a specific clinical course, or to a specific relative responsiveness to enzyme-supplementation therapy. |
| وصف الملف: | application/pdf |
| تدمد: | 1098-1004 1059-7794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8737e0e75e8a6e7a2feb880d0124665eTest https://doi.org/10.1002Test/(sici)1098-1004(1997)10:5<348::aid-humu3>3.3.co;2-n |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8737e0e75e8a6e7a2feb880d0124665e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
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