Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of a-L-fucosldase (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 a-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.