Open AccessType II Gaucher Disease: Compound Heterozygote with RecNciI and L444P Mutations
Author(s) -
Yung Seng Lee
Publication year - 2001
Publication title -
journal of tropical pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.464
H-Index - 51
eISSN - 1465-3664
pISSN - 0142-6338
DOI - 10.1093/tropej/47.2.110-a
Subject(s) - compound heterozygosity , medicine , disease , genotype , genetic counseling , heterozygote advantage , phenotype , loss of heterozygosity , genotype phenotype distinction , genetics , pediatrics , biology , allele , gene
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.
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