title: Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
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.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
authors: Olaf A F
authors: OA
authors: Bodamer
authors: Heather J
authors: HJ
authors: Church
authors: Alan
authors: A
authors: Cooper
authors: J Ed
authors: JE
authors: Wraith
authors: C Ronald
authors: CR
authors: Scott
authors: Fernando
authors: F
authors: Scaglia
mesh_terms: D019943:Amino Acid Substitution; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D005962:Glucosylceramidase / Q000172:deficiency* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007826:Laryngismus / Q000473:pathology*; D008297:Male; D009154:Mutation
chemical_list: D005962:Glucosylceramidase