Journal Article

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

Y. S. Lee, L. K. S. Poh, H. Ida and K. Y. Loke

in Journal of Tropical Pediatrics

Volume 47, issue 2, pages 110-112
Published in print April 2001 | ISSN: 0142-6338
Published online April 2001 | e-ISSN: 1465-3664 | DOI: http://dx.doi.org/10.1093/tropej/47.2.110
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.

Journal Article.  0 words. 

Subjects: Paediatrics

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