Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil

2014 ◽  
Vol 88 (4) ◽  
pp. 391-395 ◽  
Author(s):  
R.G. Chaves ◽  
L. da Veiga Pereira ◽  
F.T. de Araújo ◽  
R. Rozenberg ◽  
M.D.F. Carvalho ◽  
...  
Keyword(s):  
Founder Effect ◽  
Gaucher Disease ◽  
Northeastern Brazil ◽  
Disease Mutation

N-Glycosylation and Gaucher Disease Mutation Allosterically Alter Active-Site Dynamics of Acid-β-Glucosidase

ACS Catalysis ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 1810-1820 ◽  
Author(s):  
Michael Gregory Souffrant ◽  
Xin-Qiu Yao ◽  
Mohamed Momin ◽  
Donald Hamelberg
Keyword(s):  
Active Site ◽  
Gaucher Disease ◽  
Disease Mutation

The E326K mutation and Gaucher disease: mutation or polymorphism?

2002 ◽  
Vol 61 (1) ◽  
pp. 32-34 ◽  
Author(s):  
JK Park ◽  
N Tayebi ◽  
BK Stubblefield ◽  
ME LaMarca ◽  
JJ MacKenzie ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Mutation

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

2020 ◽  
Author(s):  
Yoo-Mi Kim ◽  
Jin-Ho Choi ◽  
Gu-Hwan Kim ◽  
Young Bae Sohn ◽  
Jung-Min Ko ◽  
...  
Keyword(s):  
Founder Effect ◽  
Gaucher Disease ◽  
Clinical Characteristics ◽  
Haplotype Analysis ◽  
Study Cohort ◽  
Ashkenazi Jewish ◽  
Founder Effects ◽  
Neuroprotective Effects ◽  
Shared Haplotype

Abstract Background 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. Results The study cohort included 63 GD patients from 58 unrelated families. Among them, 18 patients from 17 families harboured 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 (10%). Of the 18 patients harbouring the p.G85E mutation, their median age at diagnosis 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 3,075 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.

Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago

2020 ◽  
Vol 129 (2) ◽  
pp. S40
Author(s):  
Chihya Cheng ◽  
Tzu-Hung Chu ◽  
Kung-Hao Liang ◽  
Yung-Hsiu Lu ◽  
TingRong Hsu ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Founder Effect ◽  
Disease Mutation

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

2020 ◽  
Author(s):  
Yoo-Mi Kim ◽  
Jin-Ho Choi ◽  
Gu-Hwan Kim ◽  
Young Bae Sohn ◽  
Jung-Min Ko ◽  
...  
Keyword(s):  
Founder Effect ◽  
Gaucher Disease ◽  
Clinical Characteristics ◽  
Haplotype Analysis ◽  
Study Cohort ◽  
Ashkenazi Jewish ◽  
Founder Effects ◽  
Neuroprotective Effects ◽  
Shared Haplotype

Abstract Background 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. 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 3,075 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.

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

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Yoo-Mi Kim ◽  
Jin-Ho Choi ◽  
Gu-Hwan Kim ◽  
Young Bae Sohn ◽  
Jung Min Ko ◽  
...  
Keyword(s):  
Founder Effect ◽  
Gaucher Disease ◽  
Clinical Characteristics ◽  
Haplotype Analysis ◽  
Study Cohort ◽  
Ashkenazi Jewish ◽  
Founder Effects ◽  
Neuroprotective Effects ◽  
Shared Haplotype

Abstract Background 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. 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.

scholarly journals Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study

2011 ◽  
pp. 73-78 ◽  
Author(s):  
Rigoberto Gadelha Chaves ◽  
Janice Carneiro Coelho ◽  
Kristiane Michelin-Tirelli ◽  
Tibelle Freitas Maurício ◽  
Edineide de Freitas Maia Chaves ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Cross Sectional Study ◽  
Northeastern Brazil ◽  
Sectional Study ◽  
Cross Sectional ◽  
High Prevalence
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