The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
Orphanet J Rare Dis
; 15(1): 318, 2020 11 11.
Article
in En
| MEDLINE
| ID: mdl-33176831
ABSTRACT
BACKGROUND:
Gaucher disease (GD) is caused by a deficiency of ß-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.RESULTS:
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.CONCLUSION:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neuroprotective Agents
/
Gaucher Disease
/
Glucosylceramidase
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Middle aged
Country/Region as subject:
America do norte
/
Asia
Language:
En
Journal:
Orphanet J Rare Dis
Journal subject:
MEDICINA
Year:
2020
Document type:
Article