Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9369787 | Archives de Pédiatrie | 2005 | 4 Pages |
Abstract
Conclusion. - Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48Â hours) prenatal diagnosis.
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Authors
C. Morisot, G. Millat, A. Coeslier, B. Bourgois, E. Fontenoy, D. Dobbelaere, L. Verot, N. Haouari, C. Vaillant, F. Gottrand, E. Bogaert, P. Thelliez, S. Klosowski, A. Djebara, A. Bachiri, S. Manouvrier, M.T. Vanier,