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Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations
Author(s) -
Kim JongWon,
Liou Benjamin B.,
Lai MingYang,
Ponce Elvira,
Grabowski Gregory A.
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)7:3<214::aid-humu5>3.0.co;2-a
Subject(s) - biology , genetics , missense mutation , disease , allele , nonsense mutation , genotype , mutation , compound heterozygosity , glucocerebrosidase , genetic counseling , gene , medicine
Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid β‐glucosidase. Over 40 missense, nonsense, and more complex alleles have been described, primarily in Western populations. From these results, predictive genotype/phenotype correlations have been developed and used to guide genetic counseling and therapy. Only a few mutations have been described in Japanese patients with Gaucher disease and many of these have resulted in severe phenotypes. Although rare, Gaucher Disease occurs in Korean and Chinese (Taiwanese) populations. Sequencing of RT‐PCR cDNAs from five unrelated Korean and two sibling Chinese (Taiwanese) Gaucher type 1 patients identified three new Gaucher disease mutations. These disease alleles encoded V15L, G46E, and N188S substitutions leading to dysfunctional acid β‐glucosidases. The G46E was present in two Korean patients and the N188S allele was present in the Korean and Chinese (Taiwanese) populations, suggesting an ancient mutation. The commonality of these two mutations in the Korean and Chinese (Taiwanese) population indicates the need for more extensive screening for these mutations in the Gaucher populations. © 1996 Wiley‐Liss, Inc.