Abstract
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre. This rate is significantly higher than the rate reported in the literature (<1%). Three of the patients had novel mutations, one of them was a collodion baby and the other one was mistyped as type III due to its atypical presentation at the beginning and he was treated with ERT for 8 months. In this report, we present our type II Gaucher patients with three novel mutations and one perinatal lethal form with generalized ichthyosis which is a very rare disorder. Additionally, we would like to highlight the phenotypic heterogeneity not only between the subtypes, also even in the same type.
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• Details of the contributions of individual authors
Conception and design of the article: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, Ö. Hergüner, S. Kılavuz, N. Önenli-Mungan
Draft of the article: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, Ö. Hergüner, N. Önenli-Mungan
Definition of intellectual content: F.D. Bulut, D. Kör, N. Önenli-Mungan
Literature search: F.D. Bulut, B. Şeker-Yılmaz, S. Kılavuz, N. Önenli-Mungan
Data acquisition: F.D. Bulut, B. Şeker-Yılmaz, S. Ceylaner, F. Özkınay, S. Kılavuz
Data analysis: F.D. Bulut, S. Ceylaner, F. Özkınay, S. Kılavuz
Manuscript preparation: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, S. Ceylaner, F. Özkınay, N. Önenli-Mungan
Manuscript editing: F.D. Bulut, D. Kör, S. Ceylaner, F. Özkınay, N. Önenli-Mungan
Manuscript review: F.D. Bulut, B. Şeker-Yılmaz, Ö. Hergüner, N. Önenli-Mungan
Guarantor: F.D. Bulut
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Synopsis
Gaucher disease type II is a lethal, acute and progressive neurologic subtype with heterogeneous clinical findings; therefore, clinicians must be aware of different presentations of the disease. In this report, we would like to highlight the phenotypic heterogeneity of Gaucher disease type II and present three novel mutations.
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Bulut, F.D., Kör, D., Şeker-Yılmaz, B. et al. Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey. Metab Brain Dis 33, 1223–1227 (2018). https://doi.org/10.1007/s11011-018-0236-0
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DOI: https://doi.org/10.1007/s11011-018-0236-0