title: A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
abstract: Mutation screening of the glucocerebrosidase gene by SSCP analysis revealed an abnormal pattern of exon 10 in two unrelated Italian Gaucher patients. Direct sequencing of the mutated samples identified a G6490-->A transition. The same mutation has been described before in a Japanese patient with Gaucher disease type III. The clinical phenotype of our patients was type I in one whose second allele carried the N370S mutation and type II in the other one with a L444P mutation. In this latter the G6490-->A substitution cancels a normal Msp I site, while on the opposite chromosome the T6433-->C mutation (L444P) introduces a new Msp I site. Thus, digestion with Msp I of the amplified exon 10 is a useful method for identifying the two mutations simultaneously.
authors.affiliation: III Divisione Pediatrica, Istituto G. Gaslini, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: C
authors.initials: C
authors.lastname: Barbera
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D000225:Adenine; D002675:Child, Preschool; D005091:Exons; D005776:Gaucher Disease / Q000235:genetics*; D005820:Genetic Testing; D005962:Glucosylceramidase / Q000235:genetics*; D006147:Guanine; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D006147:Guanine; D005962:Glucosylceramidase; D000225:Adenine