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

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  • Type II Gaucher Disease: Compound Heterozygote with RecNciI and L444P Mutations
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  • 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 L444/L444P + A456P + V460V. There have been few reports of this hetero-zygosity 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.
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