title: Five new Gaucher disease mutations.
abstract: DNA from 17 individuals with 20 unidentified alleles was subjected to single-stranded conformation polymorphism analysis and/or sequencing and 5 previously undescribed mutations have been identified: 245T, 259T, 635G, 914C del, and IVS10(+2). Two of these mutations, 914C del and IVS10(+2), are null, or "lethal" mutations. Because the other mutation each of these two patients carried was "mild", the phenotype was type I disease. In addition to the new mutations we describe, the second example of the rare 1448G mutation has been documented in one of the patients. This mutation is particularly interesting because in samples studied by restriction analysis with NciI it can readily be confused with the common 1448C mutation. Reexamination of 28 patients who had previously been diagnosed as carrying the 1448C mutation were confirmed to be 1448C.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
authors.forename: A
authors.initials: A
authors.lastname: Demina
authors.forename: A
authors.initials: A
authors.lastname: Zimran
authors.forename: P
authors.initials: P
authors.lastname: LeCoutre
mesh_terms: D000328:Adult; D017668:Age of Onset; D044383:Black People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D005962:Glucosylceramidase