[Genetics of Gaucher's disease. Genotype-phenotype correlation].
Gaucher's disease (GD) results from a deficiency of the lysosomal enzyme glucocerebrosidase and, in very rare occasions, a deficiency of its activator, the saposin C. The complexity of identification and characterization of mutations in the gene of glucocerebrosidase (GBA1) is caused by a great amount of mutated alleles, the existence of a highly homologous pseudogene and its location in a very rich zone in genes, which promotes the presence of complex alleles. Although genotype-phenotype correlations in EG are not completely established, there are a series of generalities, as the mutation c.1226A>G (N370S) is often associated with a certain degree of neuroprotection and the homozygosity for the c.1448T>C (L444P) mutation presents with neurological symptoms.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain. mpalfonso.iacs@aragon.es
Pilar
P
Alfonso Palacín
Miguel
M
Pocoví
D000483:Alleles; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D056726:Genetic Association Studies; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D059645:Mutation Rate; D011110:Polymorphism, Genetic; D049231:Saposins / Q000235:genetics; D014158:Transcription, Genetic
C483345:PSAP protein, human; D049231:Saposins; D005962:Glucosylceramidase