A 5' splice site mutation in fucosidosis.

Williamson, Magali; Cragg, Helen; Grant, John P.; Kretz, Keith A.; O’Brien, John S.; Willems, Patrick J.; Young, Elisabeth; Winchester, Bryan

doi:10.1136/jmg.30.3.218

Cited by 19 publications

(16 citation statements)

References 26 publications

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“…To date, 25 mutations, including our patient's mutations, have been reported; 8 types of nonsense mutations, 5 types of missense mutations, 8 types of frame-shift mutations, 2 types of insertion, and 2 types of deletions (Yang et al 1992;Seo et al 1993a, b;Williamson et al 1993;Yang et al 1993;Seo et al 1994a, b;Yang and DiCioccio 1994;Seo et al 1995, Seo et al 1996, Cragg et al 1997, Fleming et al 1998. Most mutations are unique, yet one mutation (Q77X) was repeatedly observed (Yang et al 1993;Seo et al 1993b).…”

Section: Fluorescence In Situ Hybridization (Fish) Analysismentioning

confidence: 99%

Mutation analysis of a Japanese patient with fucosidosis

et al. 1999

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Section: Fluorescence In Situ Hybridization (Fish) Analysismentioning

confidence: 99%

Mutation analysis of a Japanese patient with fucosidosis

et al. 1999

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“…Up to now, fourteen different disease-causing mutations have been identified [12,14,15,16,17,20,22,23] (Table 1): five of them (Q422X, E375X, Q77, W382X, Y211X) are non-sense due to a single base change, five are frameshift due to single-base (P141fs, S265fs, S216fs, E253fs) or double-base (K151fs) deletions, two (G60D, S63L) are missense, one is a 5exon/5intron splice site mutation and one is a deletion of exons 7-8.…”

Section: Alpha-l-fucosidase Mutationsmentioning

confidence: 99%

“…At present, the structure and sequence of the gene is well known [11], and fourteen mutations have been described [12,14,15,16,17,20,22,23]. A mutation responsible for a common polymorphism has also been identified [14,24].…”

Section: Introductionmentioning

confidence: 99%

Mutations in Fucosidosis Gene: a Review

Tibério

Filocamo

Gatti

et al. 1995

Acta genet. med. gemellol.: twin res.

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Fucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. Up to now 79 cases have been described and several others identified but not yet published. The higher incidence of the disease is in Italy, where nearly 20 patients have been identified. Fourteen disease-causing mutations have been detected and four of them, Q422X, G60D, E375X, P141fs are present in more than 70% of the forty patients studied. In Italian patients, only seven mutations have been described and P141fs and G60D mutations are present in more than 50% of the cases. The P141fs mutation is absent in other ethnic groups. It has been impossible to establish genotype-phenotype correlation so far and the clinical variability of the disease cannot be explained only by genetic heterogeneity.

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“…The human and rat cDNAs for ct-Lfucosidase have been cloned (Occhiodoro et al 1989;Fisher and Aronson 1989), and the human gene has been isolated and fully characterized (Kretz et al 1992). Thus far, 12 mutations of varying types have been defined in human fucosidosis (Willems et al 1988;Kretz et al 1989;Yang et al 1992;Seo et al 1993aSeo et al , 1993bWilliamson et al 1993).…”

Section: Introductionmentioning

confidence: 99%

Isolation of the canine α-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels

Occhiodoro

Anson

1996

Mammalian Genome

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Fucosidosis is a lysosomal storage disorder caused by deficiency of alpha-L-fucosidase. A biochemically and clinically well characterized canine model of fucosidosis exists in a colony of English Springer Spaniels. To facilitate its use as a model for gene therapy and enzyme replacement therapy in lysosomal storage disorders displaying neurological symptoms, isolation of the canine alpha-L-fucosidase cDNA was undertaken. Both the nucleotide sequence and the predicted amino acid sequence of canine fucosidase show high levels of identity with the human and rat sequences. Fucosidosis dogs were found to have a greatly reduced level of alpha-L-fucosidase mRNA when compared with normal dogs by Northern blot analysis. Direct PCR sequencing of products generated from cDNA demonstrated a 14-bp deletion in mRNA from affected dogs. This deletion creates a frameshift mutation and introduces a premature translation termination codon at amino acid position 152 and was shown to correspond to a deletion of the last 14 base pairs of exon 1 of the canine alpha-L-fucosidase gene. Rapid PCR-based screening for the mutation has now been performed on genomic DNA from dogs within the colony, enabling detection of both carriers and homozygotes.

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A 5' splice site mutation in fucosidosis.

Cited by 19 publications

References 26 publications

Mutation analysis of a Japanese patient with fucosidosis

Mutation analysis of a Japanese patient with fucosidosis

Mutations in Fucosidosis Gene: a Review

Isolation of the canine α-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels

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