title: Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
abstract: The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1. (1) A C to T mutation (Q77X) in exon 1 of two Jewish-Italian siblings. This mutation was present in one allele and was found also in the mother who was of Italian origin. (2) A C to A mutation (W382X) in exon 6 in an Italian patient. This mutation was found in one allele and obliterates a unique Hphl site. (3) A C to A mutation (Y211X) in exon 3 in a Belgian patient. This mutation obliterates a unique Rsal site and was present in both alleles. (4) A homozygous single base (C) deletion in exon 2 in an Italian patient. This deletion results in a frameshift mutation (P141fs) and obliterates a unique Eael site. (5) A homozygous single base (C) deletion in exon 5 in a Portuguese patient, which also results in a frameshift mutation (S265fs). (6) A single base (A) deletion in exon 3 in a Canadian-Indian patient, which also results in a frameshift mutation (S216fs). The S216fs mutation was found in only one allele; the mutation in the other allele is not yet known.
authors.affiliation: Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.
authors.forename: H C
authors.initials: HC
authors.lastname: Seo
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: J S
authors.initials: JS
authors.lastname: O'Brien
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005645:Fucosidosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007558:Italy; D007585:Jews / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015183:Restriction Mapping; D017384:Sequence Deletion; D005644:alpha-L-Fucosidase / Q000172:deficiency / Q000235:genetics*
chemical_list: D003062:Codon; D005644:alpha-L-Fucosidase