A New Mucopolysaccharide Lipidstorage Disease?

Durand, P.

doi:10.1016/s0140-6736(66)91718-1

Cited by 87 publications

(22 citation statements)

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“…The siblings AZ and RZ belong to the same pedigree as Rob F and Ros F, the initial fucosidosis patients described by Durand et al 2 Patient SS, who had similar clinical and pathological abnormalities as Durand's original family, was the first patient in whom an α-l-fucosidase deficiency was demonstrated.…”

Section: P141fs Mutationmentioning

confidence: 96%

“…Additional features are angiokeratoma corporis diffusum, dysostosis multiplex, visceromegaly, ocular abnormalities, hearing loss, seizures, coarse features, recurrent infections, spasticity, contractures, growth retardation, muscle wasting and dystrophy. [2][3][4] All these clinical abnormalities are progressive, leading to cachexia and early death. Although clinical heterogeneity with a very rapidly progressive course and death in infancy (type I), and a slightly milder variant with death in adulthood (type II) has been described, further studies have shown that fucosidosis has a wide continuous clinical spectrum without any evidence for real clinical heterogeneity.…”

Section: Introductionmentioning

confidence: 99%

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Spectrum of mutations in fucosidosis

et al. 1999

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Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient α-l-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Fucosidosis is extremely rare with less than 100 patients reported worldwide, although the disease occurs at a higher rate in Italy, in the Hispanic-American population of New Mexico and Colorado, and in Cuba. We present here a review study of the mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the structural gene of α-l-fucosidase, has identified the mutation(s) in nearly all fucosidosis patients investigated. The spectrum of the 22 mutations detected to date includes four missense mutations, 17 nonsense mutations consisting of seven stop codon mutations, six small deletions, two large deletions, one duplication, one small insertion and one splice site mutation. All these mutations lead to nearly absent enzymatic activity and severely reduced cross-reacting immunomaterial. The observed clinical variability is, therefore, not due to the nature of the fucosidosis mutation, but to secondary unknown factors.

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Section: P141fs Mutationmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

Spectrum of mutations in fucosidosis

et al. 1999

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“…) is an autosomal recessive lysosomal storage disorder that was first described in 1966 by Durand et al (1966). The disease is rare; only approximately 100 cases have been reported worldwide (Muthusamy et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Novel mutations in the FUCA1 gene that cause fucosidosis

Panmontha¹,

Amarinthnukrowh²,

Damrongphol³

et al. 2016

Genet. Mol. Res.

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“…Descriptions of patients with this disorder were made 13 years ago by Durand (53)(54)(55)264) . At present 60 cases of fucosidosis have been reported; many affected individuals are of Italian ancestry (57).…”

Section: Defects In Glycoprotein Oligosaccharide Degradationmentioning

confidence: 99%