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. 1996 Feb;33(2):132–136. doi: 10.1136/jmg.33.2.132

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

E Sidransky 1, N Tayebi 1, B K Stubblefield 1, W Eliason 1, A Klineburgess 1, G P Pizzolato 1, J N Cox 1, J Porta 1, A Bottani 1, C D DeLozier-Blanchet 1
PMCID: PMC1051839  PMID: 8929950

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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