Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Abstract

Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that RecNciI allele is highly prevalent and associates with severe skeletal manifestations in childhood.

Keywords: BD, bone disease; Bone disease; ERT, Enzyme replacement therapy; GADTEG, The Argentine Group for Diagnosis and Treatment of Gaucher Disease (Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher; GD, Gaucher disease; GL1, Glucosylceramide; Gaucher disease; Genotype phenotype correlation; Mutation analysis.