PMID: 11336129May 5, 2001Paper

Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations

Journal of Tropical Pediatrics
Y S LeeK Y Loke

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.

Citations

Jul 16, 2011·International Journal of Cell Biology·Francis Y M Choy, Tessa N Campbell
Feb 22, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Steven V MolinskiChristine E Bear
Feb 18, 2006·Brain & Development·Cyril MignotUNKNOWN French Type 2 Gaucher Disease Study Group
Mar 16, 2005·Community Genetics·Ahmad S Teebi, Saeed A Teebi
Sep 29, 2018·Molecular Genetics & Genomic Medicine·Nader Al-DewikTawfeg Ben-Omran
Oct 31, 2007·Pediatric Pulmonology·S K KabraS Shastri
Sep 3, 2013·European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology·A Abdul WahabC H Klaassen

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