We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Authors
Kim, Yoo-Mi; Choi, Jin-Ho; Kim, Gu-Hwan; Sohn, Young Bae; Ko, Jung Min; Lee, Beom Hee; Cheon, Chong Kun; Lim, Han Hyuk; Heo, Sun-Hee; Yoo, Han-Wook
- Abstract
<bold>Background: </bold>Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canadian populations. This study aimed to investigate the clinical characteristics and mutation spectrum of GBA in Korean GD patients and to identify founder effect of GBA p.G85E in non-neuronopathic GD patients.<bold>Results: </bold>The study cohort included 62 GD patients from 58 unrelated families. Among them, 18 patients from 17 families harbored the p.G85E mutation. Haplotype analysis was performed for 9 probands and their parents for whom DNA samples were available. In 58 unrelated probands, the GBA mutation p.L483P was the most common (30/116 alleles, 26%), followed by p.G85E (16%), p.F252I (13%), and p.R296Q (9%). The median age at diagnosis of the 18 patients harboring the p.G85E mutation was 3.8 (range 1.2-57) years. No patients developed neurological symptoms during follow-up periods of 2.2-20.3 (median 13.9) years. The size of the shared haplotype containing GBA p.G85E was 732 kbp, leading to an estimated age of 3075 years.<bold>Conclusion: </bold>The GBA p.G85E mutation, which appears to be neuroprotective despite producing distinctive visceromegaly and skeletal symptoms, exhibited a potential founder effect in Korean GD patients.
- Subjects
KOREANS; LAMINITIS; HAPLOTYPES; SYMPTOMS
- Publication
Orphanet Journal of Rare Diseases, 2020, Vol 15, Issue 1, pN.PAG
- ISSN
1750-1172
- Publication type
journal article
- DOI
10.1186/s13023-020-01597-0