Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Background: Gaucher disease (GD) is caused by a recessively inherited deficiency of glucocerebrosidase which is encoded by the GBA gene in which nearly 450 mutations have been described. However, only a few genotype- phenotype correlations have been clearly established. The aim of this study was to investigate molecular features of GD in Romanian patients and to evaluate their impact on treatment response. Material and methods: 69 patients, diagnosed between 1997 and 2014 at our national referral laboratory, were included in this study. Frequent point mutations (N370S, L444P, 84GG, R463C) were detected by amplification and restriction enzyme digestion. Recombinant alleles (recTL, recNciI, recA456P) were screened by DNA sequencing. Plasma chitotriosidase served as a biomarker of disease severity throughout the follow-up period. Results: 66 patients had the non-neuronopathic (type 1) form of GD and 3 had the chronic neuronopathic (type 3) phenotype. We identified 79% of the mutant alleles, among which the most frequent mutations were N370S (54%) and L444P (18%). We found a statistically significant (p