Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Tim PhetthongThipwimol Tim-AroonArthaporn KhongkraparnSaisuda NoojarernChulaluck KuptanonKhunton WichajarnAchara SathienkijkanchaiKanya SuphapeetipornPimlak CharoenkwanAdisak TantiworawitNaruwan NoentongDuangrurdee Wattanasirichaigoon

Published in: Orphanet journal of rare diseases (2021)

Neuronopathic GD was strikingly prevalent among Thai affected population. Homozygous p.L483P was the most common genotype identified in Thai patients. Recombinant allele Rec1a and splicing mutations were associated with GD2 and severe cases of GD3. Mutation spectrum could be useful for designing stepwise molecular analysis, genetic screenings in population, and new therapeutic research for neuronopathic GD.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
gene expression
dna methylation
patient reported
replacement therapy