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The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

  • Kim, Yoo-Mi1, 2
  • Choi, Jin-Ho3
  • Kim, Gu-Hwan4
  • Sohn, Young Bae5
  • Ko, Jung Min6
  • Lee, Beom Hee3, 4
  • Cheon, Chong Kun7
  • Lim, Han Hyuk2
  • Heo, Sun-Hee4
  • Yoo, Han-Wook3, 4
  • 1 Chungnam National University Sejong Hospital, Sejong, Korea , Sejong (South Korea)
  • 2 Chungnam National University Hospital, Daejeon, Korea , Daejeon (South Korea)
  • 3 University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, Korea , Seoul (South Korea)
  • 4 University of Ulsan College of Medicine, Seoul, Korea , Seoul (South Korea)
  • 5 Ajou University Hospital, Suwon, Korea , Suwon (South Korea)
  • 6 Seoul National University Children’s Hospital, Seoul, Korea , Seoul (South Korea)
  • 7 Pusan National University Children’s Hospital, Yangsan, Korea , Yangsan (South Korea)
Published Article
Orphanet Journal of Rare Diseases
Springer (Biomed Central Ltd.)
Publication Date
Nov 11, 2020
DOI: 10.1186/s13023-020-01597-0
Springer Nature


BackgroundGaucher 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.ResultsThe 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.ConclusionThe 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.

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