Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

Olaf A.F. Bodamer, Heather J. Church, Alan Cooper, J. Ed Wraith, C. Ronald Scott, Fernando Scaglia

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

A 20-month-old girl with developmental delay, dysmorphic features, horizontal supranuclear gaze palsy, retrocollis, and episodes of laryngospasm was diagnosed with variant neuronopathic Gaucher disease. The diagnosis was made enzymatically. Mutation analysis showed compound heterozygosity for D409H and a previously unreported mutation C16S. The presence of dysmorphic features, laryngospasm, absent cardiac findings, and the severe clinical phenotype distinguishes our case from other cases of variant neuronopathic Gaucher disease. We therefore propose to extend the spectrum of variant Gaucher disease.

Original languageEnglish (US)
Pages (from-to)328-331
Number of pages4
JournalAmerican journal of medical genetics
Volume109
Issue number4
DOIs
StatePublished - May 15 2002

Keywords

  • β-glucosidase deficiency
  • Genotypic and phenotypic variability
  • Variant neuronopathic form

ASJC Scopus subject areas

  • Genetics(clinical)

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