Clinical and genetic study of Japanese patients with type 3 Gaucher disease

Characteristics of 27 patients with type 3 Gaucher disease: a descriptive analysis from the Gaucher Outcome Survey

“…In this analysis, 3 of 33 (9.1%) patients enrolled in GOS in Brazil had GD3, compared with a previous report of 5% [29], although absolute numbers were small. Given the low patient numbers involved, the percentage of patients reported as having GD3 in GOS (2.7%) is similar to that reported by other registry studies (5%), which typically include countries known to have higher prevalence rates of GD3, such as Sweden, Egypt, China, India, Korea, and Japan [4][5][6][7][8][9]. Further work would be needed to establish whether the GBA1 genotype, disease course, and clinical characteristics of patients with GD3 in GOS differ from those in countries with a higher prevalence of GD3.…”

“…Patients with type 2 (acute neuronopathic) GD (GD2) suffer rapid deterioration, with death usually occurring before 2 years of age, while patients with type 3 (chronic neuronopathic) GD (GD3) experience a slower disease course [3]. An estimated 5% of patients with GD in Europe, North America, and Israel are affected by type 3 disease [3,4], but much higher percentages have been reported in some countries, including Sweden, Egypt, China, India, Korea, and Japan [4][5][6][7][8][9].…”

Clinical and genetic characteristics of Korean patients with Gaucher disease

“…Indeed, 5 patients had homozygous mutations of these 4 alleles; 2 patients with L444P/L444P and 1 patient each with G46E/G46E, F213I/F213I, or R257Q/R257Q. Several reports have suggested that L444P compound heterozygous mutations are associated with type 2 GD (severe type) and that the L444P/L444P homozygous mutation is more frequently associated with type 3 GD than with types 1 and 2 [10,[12][13][14][15][16]. In Korean GD patients, the L444P/L444P mutation was detected in 2 patients (cases No.…”

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

“…6 Many unknown mutations in GD patients of reported series remain to be identified. 6,12,16 Our approach may contribute to the improvement of genotyping efficiency in GD patients and provide insights into the molecular diagnosis of GD.…”