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

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

doi:10.1186/s13023-020-01597-0

Orphanet Journal of Rare Diseases

Table 2 Clinical characteristic of 18 patients with Gaucher disease having homozygous or compound heterozygous mutations with p.G85E (G46E) of GBA

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

Subject no.	1^a	2	3^a	4	5^a	6^a	7	8	9^a	10^a	11^a	12^a	13^a	14	15	16	17	18
Allele1	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E	p.G85E
Allele2	p.R159W	p.R296Q	p.R296Q	Rec8a	p.D438N	p.F252I	p.F252I	p.F252I	p.F252I	p.L483P	p.L483P	p.L483P	p.L483P	p.L483P	p.I442T	p.G85E	p.G85E	p.V230G
Sex	F	F	F	F	M	M	F	M	M	F	F	M	F	M	F	M	F	M
Age at Dx	1y1m	1y 5m	1y11m	1y10m	3y	4y6m	11 y	20y	12y10m	2y3m	2y10m	2y	2y3m	57y	7y	7y	30 y	23 y
Age at ERT	1y 2m	1y 6m	1y 11m	1y 11m	3y	4y 6m	20y 3m	20y	12y11m	3y 4m	2y10m	9y	3y 4m	57y	11y7m	13y8m	31y	31y
Current age	16y1m	3y8m	14y4m	15y	11y	18y3m	40y6m	39y9m	25y7m	12y	5y1m	29y3m	19y1m	67y	31y8m	expired (19y)^b	45y3m	49y3m
Total duration of ERT	14y11m	2y 2m	12y5m	14y1m	8y	13y9m	20y3m	19y9m	13y3m	9y	2y3m	20y3m	15y7m	10y	20y1m	5y4m	14y3m	18y3m
Hepato-splenomegaly	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Skeletal involvement	+	−	−	−	+	−	+, AVN	−	+, AVN	+	+	+, OS	−	+, AVN	+	+, AVN, FX	ND	−
Bone pain at diagnosis	+	−	−	−	+	−	+	−	+	+	+	−	ND	+	+	+	ND	+
Anemia at Dx	+	+	+	+	+	+	+	−	+	+	+	+	ND	−	+	−	−	−
Thrombo-cytopenia at Dx	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Height at Dx (SDS)	− 0.98	− 1.86	− 0.47	− 1.4	0.69	− 1.5	− 1.63	− 1.68	− 1.29	− 0.89	− 2.83	− 1.49	ND	− 1.88	− 2.13	− 2.24	ND	ND
Weight at Dx (SDS)	− 1.27	− 1.34	− 1.27	− 1.58	0.89	− 1.13	− 2.23	− 1.37	− 0.89	− 0.14	− 1.07	− 1.23	ND	− 0.43	− 2.42	− 1.64	ND	ND
Current height (SDS)	0.04	− 1.1	1.95	− 0.54	1.94	− 0.49	− 1.37	− 1.37	− 0.83	− 0.12	0.14	0.44	ND	− 1.88	− 0.9	0.12	ND	ND
Current weight (SDS)	0.57	− 0.24	1.01	0.4	1.86	1.02	− 0.01	0.77	0.13	0.81	− 0.17	0.3	ND	0.28	− 1.7	− 0.19	ND	ND
Operation	–	–	–	–	–	–	+, SP, CL	–	–	–	–	+, SP	–	+, HR (59y)	+, SP (7y)	+, SP (7y)	–	–

^aThe patients who included for haplotype analysis
^bCause of death: acute pneumococcal meningitis
Dx diagnosis, ERT enzyme replacement therapy, SDS standard deviation score, AVN avascular necrosis of femur neck, OS osteoporosis, FX fracture of bone, SP splenectomy, CL cholecystectomy, HR hip replacement surgery

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ISSN: 1750-1172

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