The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele...

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Bibliographic Details
Published in:Journal of medical genetics 1996-02, Vol.33 (2), p.132-136
Main Authors: Sidransky, E, Tayebi, N, Stubblefield, B K, Eliason, W, Klineburgess, A, Pizzolato, G P, Cox, J N, Porta, J, Bottani, A, DeLozier-Blanchet, C D
Format: Article
Language:English
Subjects:
Afghanistan - ethnology
Alleles
Animals
Base Sequence
Biological and medical sciences
Cells, Cultured
DNA Mutational Analysis
Errors of metabolism
Fatal Outcome
Fibroblasts - enzymology
Fibroblasts - pathology
Gaucher Disease - classification
Gaucher Disease - enzymology
Gaucher Disease - genetics
Gaucher Disease - pathology
Genes, Lethal
Genes, Recessive
Glucosylceramidase - deficiency
Glucosylceramidase - genetics
Humans
Infant, Newborn
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Mice
Mice, Knockout
Molecular Sequence Data
Phenotype
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Summary:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA was present, an affected fetus had virtually no glucocerebrosidase cross reactive material on western analyses. The severe clinical course and pathology observed in these patients resemble that of the null allele Gaucher mouse, and suggest that the absence of glucocerebrosidase activity results in early death.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.33.2.132