Mutation Analysis of Gaucher Disease Patients in Taiwan: High Prevalence of the Recncii and L444p Mutations
Resource
BLOOD CELLS MOLECULES AND DISEASES v.36 n.3 pp.422-425
Journal
BLOOD CELLS MOLECULES AND DISEASES
Journal Volume
v.36
Journal Issue
n.3
Pages
422-425
Date Issued
2006
Date
2006
Author(s)
HSU, CHIN-MOO
TSAI, C-H
LEE, CHENG-CHUN
HWU, WUH-LIANG
TSAI, FUU-JEN
Abstract
Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the beta- glucosidase gene. Although > 200 mutations in the gene for human beta-glucosidase have been described, most genotype/ phenotype studies have focused on screening for a few common mutations. In the present study, whole gene sequencing analysis was performed. We sequenced eight patients with type 1, five patients with type 2, and six patients with type 3 Gaucher disease in Taiwan. A total of 37 Gaucher chromosome were identified. The detection rate is 97%. For types I and 3 Gaucher disease, 1448 T > C (L444P) account for 53.5% Gaucher chromosome and the recombinant allele [ 1448 T > C, 1483 T > G, 1497 G > C] (RecNciI) has 25% prevalence rate among those patients. For type 2 Gaucher disease, all five patients carry L444P mutation, and RecNciI is found in two of the six patients. Because L444P is also present in the RecNciI mutation, all the patients in this study have a L444P mutation in their Gaucher chromosomes. The third most common mutation of type I Gaucher disease is 475 C > T (R120W). L444P homozygote and R120W/ RecNcil genotypes are associated with non-neuronopathic Gaucher disease. RecNciI is related to neuronopathic disease, while R120W is represented as a mild mutation in Taiwan. The mutation profile of Gaucher disease in Taiwan is limited. Only four different alleles were identified in types I and 3 as well as in type 2 Gaucher disease. (c) 2006 Elsevier Inc . All rights reserved.
Subjects
Gaucher disease
mutation
Taiwanese
L444P
RecNciI
SDGs
Type
journal article