Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

Clinical and genetic characteristics of Korean patients with Gaucher disease

“…The P201 residue together with the G202 residue is located near the GBA α-helix 3 region [18]. Because the G202 mutations, G202R and G202E, are known to be associated with severe phenotypes [19,22], the P201H allele seems to be a pathogenic mutation. The F347L + L444P missense mutation was found in a mentally retarded male patient (case No.…”

Newborn Screening for Lysosomal Storage Disorders in Hungary

“…Furthermore, seven carriers for Gaucher disease were identified, the mutations c.1226 A>G (p.N409S) (Tsuji et al 1988) and c.1223 C>T (p.T408M) (Beutler et al 1996) occurring once and five times, respectively, and both linked to the type I of Gaucher disease (Amaral et al 2000;Miocić et al 2005;Nichols et al 2009). In addition, both c.1223 C>T (p.T408M) (Beutler et al 1996) and c.475 C>T (p.R159W) (Horowitz and Zimran 1994) have been proven to be connected with Parkinson's disease (Hodanová et al 1999;Amaral et al 2000;Mitsui et al 2009). Overall, clinically relevant phenotypes in Gaucher patients as well as carriers have been identified.…”

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

“…Neither of the two affected individuals in this family had the c.1093G4C alteration. Both c.1093G4C and c.1223C4T reportedly have an impact on enzyme activity [Hodanova et al, 1999;Montfort et al, 2004], but each has been found in approximately 1% of control individuals Walker et al, 2003].…”

“…2C). Similarly, a complex allele reported to harbor c.1448T4C and c.1497G4C, but not c.1483G4C [Hodanova et al, 1999], may have resulted from recombination with another GBAP variant (J03060.1:g.4891C4G) (Supplementary Table S2; Fig. 2F).…”