Type II Gaucher Disease: Compound Heterozygote with RecNciI and L444P Mutations

Open Access
Publisher Website
Google Scholar
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 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.

This publication has 0 references indexed in Scilit: