Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

被引：0

作者：

Deborah L Stone

Otto P van Diggelen

Johannis BC de Klerk

Johannes LJ Gaillard

Martinus F Niermeijer

Rob Willemsen

Nahid Tayebi

Ellen Sidransky

机构：

[1] Clinical Neuroscience Branch,Departments of Clinical Genetics

[2] Intramural Research Program,Department of Clinical Pathology

[3] National Institute of Mental Health,undefined

[4] National Institutes of Health,undefined

[5] University Hospital,undefined

[6] Erasmus University,undefined

[7] Pediatrics,undefined

[8] University Hospital,undefined

[9] Erasmus University,undefined

[10] St Clara Hospital,undefined

来源：

European Journal of Human Genetics | 1999年 / 7卷

关键词：

Gaucher disease; lysosomal storage disorder; hydrops fetalis; collodion baby; mutation analysis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

In recent years there has been increased recognition of a severe perinatal lethal form of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase. We previously reported a case of severe type 2 Gaucher disease which was seen in a medical center in Rotterdam and now present three new cases from two other families seen at the same center. Mutational analyses of these cases revealed two novel mutations, H311R and V398F, located in exons 8 and 9, respectively. The identification of four cases of lethal type 2 Gaucher disease in a single center seems to be a function of increased awareness of this phenotype, rather than of geographic clustering. The actual incidence of lethal type 2 Gaucher disease may be underestimated, as many cases may have been misclassified as collodion babies or hydrops of unknown cause.

引用

页码：505 / 509

页数：4