Genetic characterization of the Albanian Gaucher disease patient population.

ABSTRACT: Gaucher disease (GD) is a recessive metabolic disorder caused by a deficiency of the GBA gene-encoded enzyme β-glucocerebrosidase. We characterized a cohort of 36 Albanian GD patients, 31 with GD type 1 and 5 affected by GD types 2, 3, and an intermediate GD phenotype between type 2 and type 3. Of the 12 different GBA alleles that we detected, the most frequently observed was p.Asn409Ser, followed by p.[Asp448His;His294Gln]. The prevalence of the p.Leu483Pro allele was approximately 10-fold lower than reported in other populations. We identified a novel pathogenic missense variant (c.1129G>A; p.Ala377Thr). All five of our non-type 1 patients had genotypes consisting of the p.[Asp448His;His294Gln] allele in combination with another severe GBA allele. The median Lyso-Gb1

SUBMITTER: Cullufi P 

PROVIDER: S-EPMC7802630 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature