Genetic and Demographic Characterization of a Population with High Incidence of Fucosidosis

Sangiorgi, Simonetta; Mochi, M.; Beretta, Maria Isabel Ruiz; Prosperi, L; Costantino, Gabriele; Romeo, Giovanni

doi:10.1159/000153267

Cited by 4 publications

(1 citation statement)

References 7 publications

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“…Others have suggested that the two phenotypes may arise by differential accumulation of storage materials, such as blood group substances, whose biosynthesis is under a different system of genetic control (57). However, an unusual distribution of blood-group polymorphisms has not been detected in populations with high incidence of a-fucosidosis (219) .…”

Section: Nature Of the Mutation And Biochemical Genetics Of (X Fucosimentioning

confidence: 99%

Genetic Defects in Glycoprotein Metabolism

Warner

O’Brien

1983

Annu. Rev. Genet.

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Section: Nature Of the Mutation And Biochemical Genetics Of (X Fucosimentioning

confidence: 99%

Genetic Defects in Glycoprotein Metabolism

Warner

O’Brien

1983

Annu. Rev. Genet.

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Fucosidosis revisited: A review of 77 patients

et al. 1991

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Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to define the natural history of fucosidosis. The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), growth retardation (78%), recurrent infections (78%), dysostosis multiplex (58%), angiokeratoma corporis diffusum (52%), visceromegaly (44%), and seizures (38%). Whereas the original fucosidosis patients described by Durand et al. (J. Pediatr 75:665-674, 1969) were decerebrate and died before age 5 years, most fucosidosis patients have a slower course of degeneration. Mortality before age 5 years was observed in only 7 patients (9%), whereas 36 patients (64%) reached the second decade. We did not find evidence for the existence of clinical heterogeneity with a rapidly progressive type I and a slowly progressive type II fucosidosis as suggested in the literature. Instead, there seems to exist a wide continuous clinical spectrum. At the biochemical level no heterogeneity in residual fucosidase enzyme activity or cross-reacting immunoreactive fucosidase protein was observed. At the DNA level at least 4 different mutations must be responsible for fucosidosis. These genotypic differences however do not explain the observed phenotypic differences.

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Diversity of some gene frequencies in European and Asian populations. III. Spatial correlogram analysis

Barbujani

1987

Annals of Human Genetics

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The gene frequencies at eight loci in some European and Asian human populations have been subjected to spatial autocorrelation analysis, using Geary's c coefficient. Contrary to what is expected for markers affected only by gene flow and genetic drift, the spatial correlograms show distinct modes of gene frequency variation: there are significant clinal patterns (at the GLO and ESD loci), significant non-clinal patterns (AK, ADA, 6-PGD and GPT) and marginally significant patterns (PGP and SOD). Any hypothesis on the evolution of these polymorphisms should account for the observed heterogeneity of their geographical distributions.

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Genetic and Demographic Characterization of a Population with High Incidence of Fucosidosis

Cited by 4 publications

References 7 publications

Genetic Defects in Glycoprotein Metabolism

Genetic Defects in Glycoprotein Metabolism

Fucosidosis revisited: A review of 77 patients

Diversity of some gene frequencies in European and Asian populations. III. Spatial correlogram analysis

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