title: Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations.
abstract: We report the phenotype and genotype of an Indonesian Chinese boy with type II Gaucher disease. He had a unique presentation of recurrent cyanosis from laryngospasm. He was compound heterozygous for L444P/L444P + A456P + V460V. There have been few reports of this heterozygosity and its phenoptype. This genotype-phenotype correlation will be important for physicians in genetic counselling. Type II Gaucher disease in Southeast Asia may not be as rare as was perceived, but may be a condition that is under-reported. The success of our technique together with the results have made it possible for us to perform prenatal diagnosis and carrier detection for the family.
authors.affiliation: Department of Paediatrics, National University Hospital, Singapore.
authors.forename: Y S
authors.initials: YS
authors.lastname: Lee
authors.forename: L K
authors.initials: LK
authors.lastname: Poh
authors.forename: H
authors.initials: H
authors.lastname: Ida
authors.forename: K Y
authors.initials: KY
authors.lastname: Loke
mesh_terms: D000483:Alleles; D005776:Gaucher Disease / Q000235:genetics* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007214:Indonesia; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: D005962:Glucosylceramidase