title: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
abstract: 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.
authors.affiliation: Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892-4405, USA.
authors.forename: D L
authors.initials: DL
authors.lastname: Stone
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: J B
authors.initials: JB
authors.lastname: de Klerk
authors.forename: J L
authors.initials: JL
authors.lastname: Gaillard
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: R
authors.initials: R
authors.lastname: Willemsen
authors.forename: N
authors.initials: N
authors.lastname: Tayebi
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012867:Skin / Q000473:pathology
chemical_list: D005962:Glucosylceramidase