{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:46:14Z","timestamp":1761057974206},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,5,3]],"date-time":"2004-05-03T00:00:00Z","timestamp":1083542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. \u03b2\u2010Glucocerebrosidase (\u03b2\u2010glucosidase) activity is usually low or undetectable. In most cases death ensues either in\u2010utero or within hours or days after birth. We report on an infant born to non\u2010consanguineous parents of Caucasian origin presenting at birth with hydrops, arthrogryposis, severe respiratory distress, hepatosplenomegaly, and liver failure. Death occurred within several hours after delivery and autopsy revealed typical Gaucher cells in multiple organs in combination with severe apoptotic neurodegeneration throughout the brain. \u03b2\u2010Glucocerebrosidase activity was 1% of the norm in fibroblasts and a novel heterozygous insertion c.1515_1516insAGTGAGGGCAAT was identified by genomic sequencing and an insertion\u2010specific seminested PCR. In addition, molecular studies revealed a previously described in type 1 Gaucher disease missense mutation c.476G\u2009\u2192\u2009A which results in a heterozygous substitution of R120Q. Our observations confirm considerable genotypic heterogeneity in patients with type 2 Gaucher disease. The transheterozygous combination of a mutation, previously described in type 1 Gaucher disease, together with a newly identified insertion may result in this severe phenotype. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20445","type":"journal-article","created":{"date-parts":[[2004,5,3]],"date-time":"2004-05-03T21:00:42Z","timestamp":1083618042000},"page":"138-143","source":"Crossref","is-referenced-by-count":17,"title":["Intrauterine onset of acute neuropathic type 2 Gaucher disease: Identification of a novel insertion 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